Variant report

Variant	nsv897812
Chromosome Location	chr11:67174597-67198887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1455)
CpG islands
(count:2871)
Chromatin interactive
region (count:63)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67195575-67196101	HepG2	liver:	n/a	n/a
2	ATF1	chr11:67195555-67196285	K562	blood:	n/a	n/a
3	ATF2	chr11:67195556-67196219	GM12878	blood:	n/a	n/a
4	ATF2	chr11:67195547-67196129	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:67176536-67177053	GM12878	blood:	n/a	n/a
6	ATF2	chr11:67195444-67196097	GM12878	blood:	n/a	n/a
7	ATF3	chr11:67195593-67196119	H1-hESC	embryonic stem cell:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
8	ATF3	chr11:67195608-67196211	HepG2	liver:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
9	ATF3	chr11:67195454-67196229	K562	blood:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
10	ATF3	chr11:67188448-67188718	K562	blood:	n/a	n/a
11	ATF3	chr11:67195597-67196149	A549	lung:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
12	ATF3	chr11:67195613-67196177	GM12878	blood:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
13	ATF3	chr11:67195772-67196015	GM12878	blood:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
14	ATF3	chr11:67195657-67196160	H1-hESC	embryonic stem cell:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
15	ATF3	chr11:67195682-67196137	HepG2	liver:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
16	ATF3	chr11:67195553-67196085	K562	blood:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
17	ATF3	chr11:67195694-67196088	K562	blood:	n/a	chr11:67195902-67195915 chr11:67195913-67195922 chr11:67195904-67195914 chr11:67195903-67195923 chr11:67195902-67195913 chr11:67195902-67195913
18	BACH1	chr11:67190239-67190362	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr11:67187790-67187821	K562	blood:	n/a	n/a
20	BACH1	chr11:67188387-67188748	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL3	chr11:67195460-67196090	A549	lung:	n/a	n/a
22	BCL3	chr11:67195571-67196212	A549	lung:	n/a	n/a
23	BCL3	chr11:67187129-67187391	GM12878	blood:	n/a	n/a
24	BCLAF1	chr11:67176511-67177108	GM12878	blood:	n/a	n/a
25	BCLAF1	chr11:67187937-67188334	GM12878	blood:	n/a	n/a
26	BCLAF1	chr11:67195457-67196171	GM12878	blood:	n/a	n/a
27	BCLAF1	chr11:67195600-67196176	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:67195663-67196117	GM12878	blood:	n/a	chr11:67195922-67195938 chr11:67195914-67195930
29	BHLHE40	chr11:67179207-67179387	K562	blood:	n/a	n/a
30	BHLHE40	chr11:67177311-67177549	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:67188067-67188131	K562	blood:	n/a	n/a
32	BHLHE40	chr11:67174803-67174855	GM12878	blood:	n/a	n/a
33	BHLHE40	chr11:67188258-67188614	HepG2	liver:	n/a	chr11:67188345-67188361
34	BHLHE40	chr11:67195565-67196084	K562	blood:	n/a	chr11:67195922-67195938 chr11:67195914-67195930
35	BHLHE40	chr11:67176712-67176950	GM12878	blood:	n/a	n/a
36	BHLHE40	chr11:67188399-67188616	K562	blood:	n/a	n/a
37	BHLHE40	chr11:67188429-67188611	GM12878	blood:	n/a	n/a
38	BHLHE40	chr11:67174754-67174798	K562	blood:	n/a	n/a
39	BHLHE40	chr11:67188009-67188193	GM12878	blood:	n/a	n/a
40	BRCA1	chr11:67195705-67196226	HepG2	liver:	n/a	n/a
41	BRCA1	chr11:67195519-67196047	GM12878	blood:	n/a	n/a
42	BRCA1	chr11:67188731-67188974	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr11:67195619-67196181	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:67195541-67196175	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr11:67197023-67197083	GM12878	blood:	n/a	n/a
46	CBX3	chr11:67195527-67196127	K562	blood:	n/a	n/a
47	CBX3	chr11:67189986-67190345	K562	blood:	n/a	n/a
48	CBX3	chr11:67188439-67188784	K562	blood:	n/a	n/a
49	CCNT2	chr11:67188066-67188877	K562	blood:	n/a	n/a
50	CCNT2	chr11:67195781-67196222	K562	blood:	n/a	n/a

(count:2871 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67174843-67174893	HUVEC	blood vessel:	n/a
2	chr11:67195771-67195821	MCF-7	breast:	n/a
3	chr11:67183330-67183380	GM19239	blood:	n/a
4	chr11:67195993-67196043	HepG2	liver:	n/a
5	chr11:67174843-67174893	HUVEC	blood vessel:	n/a
6	chr11:67195771-67195821	MCF-7	breast:	n/a
7	chr11:67183330-67183380	GM19239	blood:	n/a
8	chr11:67195993-67196043	HepG2	liver:	n/a
9	chr11:67188871-67188921	HEEpiC	esophagus:	n/a
10	chr11:67188491-67188541	A549	lung:	n/a
11	chr11:67174843-67174893	GM06990	blood:	n/a
12	chr11:67195596-67195646	SAEC	small airway:	n/a
13	chr11:67183330-67183380	NHDF-neo	bronchial:	n/a
14	chr11:67183083-67183133	BJ	skin:	n/a
15	chr11:67189121-67189171	K562	blood:	n/a
16	chr11:67193268-67193318	AG04450	lung:	fetal
17	chr11:67195841-67195891	AG09309	skin:	n/a
18	chr11:67188192-67188242	HEEpiC	esophagus:	n/a
19	chr11:67195993-67196043	T-47D	breast:	n/a
20	chr11:67188673-67188723	PFSK-1	brain:	n/a
21	chr11:67189121-67189171	ECC-1	luminal epithelium:	n/a
22	chr11:67179310-67179360	CMK	blood:	n/a
23	chr11:67179310-67179360	GM12892	blood:	n/a
24	chr11:67183498-67183548	RPTEC	kidney:	n/a
25	chr11:67177103-67177153	AG09319	gingival:	n/a
26	chr11:67176914-67176964	LNCaP	prostate:	n/a
27	chr11:67196864-67196914	AG09309	skin:	n/a
28	chr11:67183148-67183198	A549	lung:	n/a
29	chr11:67191526-67191576	HMEC	breast:	n/a
30	chr11:67183078-67183128	SK-N-SH	brain:	n/a
31	chr11:67182672-67182722	PFSK-1	brain:	n/a
32	chr11:67196506-67196556	HepG2	liver:	n/a
33	chr11:67195844-67195894	HCF	heart:	n/a
34	chr11:67188491-67188541	IMR90	lung:	fetal
35	chr11:67195841-67195891	LNCaP	prostate:	n/a
36	chr11:67195829-67195879	GM19239	blood:	n/a
37	chr11:67177034-67177084	AG04449	skin:	fetal
38	chr11:67192596-67192646	NHBE	bronchial:	n/a
39	chr11:67182488-67182538	PANC-1	pancreas:	n/a
40	chr11:67177042-67177092	ovcar-3	ovarian:	n/a
41	chr11:67191412-67191462	U87	brain:	n/a
42	chr11:67191275-67191325	CMK	blood:	n/a
43	chr11:67191275-67191325	HepG2	liver:	n/a
44	chr11:67193268-67193318	MCF-7	breast:	n/a
45	chr11:67189121-67189171	PANC-1	pancreas:	n/a
46	chr11:67183080-67183130	LNCaP	prostate:	n/a
47	chr11:67189121-67189171	Hepatocyte	liver:	n/a
48	chr11:67183080-67183130	HEEpiC	esophagus:	n/a
49	chr11:67188491-67188541	ProgFib	skin:	n/a
50	chr11:67183498-67183548	NH-A	brain:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67195874..67196504-chr6:27114693..27115280,2	Hela-S3	cervix:
2	chr11:67187671..67190437-chr11:67260669..67262502,2	MCF-7	breast:
3	chr11:67195909..67196678-chr14:35873287..35873888,2	Hela-S3	cervix:
4	chr11:33279068..33280061-chr11:67195914..67196832,2	Hela-S3	cervix:
5	chr11:67196864..67197370-chr21:40181000..40181701,2	Hela-S3	cervix:
6	chr11:67195686..67198461-chr11:67271538..67273445,2	K562	blood:
7	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
8	chr11:67123397..67125760-chr11:67179408..67181042,2	K562	blood:
9	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
10	chr11:67184311..67187046-chr11:67307232..67309565,2	K562	blood:
11	chr11:67172672..67175218-chr11:67274575..67276166,2	K562	blood:
12	chr11:67185175..67187264-chr11:67247117..67248962,2	K562	blood:
13	chr11:67185700..67187766-chr11:67250423..67251941,2	K562	blood:
14	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
15	chr11:67174684..67176198-chr11:67271900..67273931,2	K562	blood:
16	chr11:67186236..67188568-chr11:67242107..67244785,2	MCF-7	breast:
17	chr11:67194291..67197631-chr11:67229995..67233154,6	K562	blood:
18	chr11:67177386..67180366-chr17:57935264..57937336,3	MCF-7	breast:
19	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
20	chr10:6244775..6245295-chr11:67195896..67196459,2	Hela-S3	cervix:
21	chr11:67195896..67196549-chr15:81292682..81293568,2	Hela-S3	cervix:
22	chr11:67187544..67192614-chr11:67201349..67205044,6	K562	blood:
23	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
24	chr11:67190801..67193433-chr11:67271634..67274459,2	MCF-7	breast:
25	chr11:67168977..67169771-chr11:67188130..67189217,5	K562	blood:
26	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
27	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
28	chr11:67147040..67148988-chr11:67186808..67188399,2	K562	blood:
29	chr11:67175295..67177468-chr11:67274003..67276174,2	MCF-7	breast:
30	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
31	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
32	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
33	chr11:67195918..67196419-chr12:6643261..6644093,2	Hela-S3	cervix:
34	chr11:67179246..67180965-chr11:67201278..67203605,2	K562	blood:
35	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:
36	chr11:67174351..67176822-chr11:67262418..67264018,2	K562	blood:
37	chr11:67195661..67196414-chr14:92587537..92588307,2	Hela-S3	cervix:
38	chr11:67176964..67178797-chr11:67202823..67204626,2	K562	blood:
39	chr11:67190568..67192849-chr11:67232756..67235079,2	K562	blood:
40	chr11:67172860..67176369-chr11:67201428..67204494,3	K562	blood:
41	chr11:67184903..67187466-chr11:67255096..67257240,2	K562	blood:
42	chr11:67178949..67181040-chr11:67275352..67277898,2	K562	blood:
43	chr11:67195659..67197780-chr5:130970138..130971644,2	MCF-7	breast:
44	chr11:67054592..67057284-chr11:67183944..67185616,2	MCF-7	breast:
45	chr11:67177049..67178732-chr17:56707856..56710336,2	MCF-7	breast:
46	chr11:67195808..67196470-chr19:3366580..3367564,2	Hela-S3	cervix:
47	chr11:67195785..67196556-chr20:30192761..30193301,2	Hela-S3	cervix:
48	chr11:67168861..67169503-chr11:67195685..67196520,2	Hela-S3	cervix:
49	chr11:67194364..67200337-chr11:67272800..67277654,9	MCF-7	breast:
50	chr11:67185544..67187965-chr11:67270918..67273442,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARNS1-1	chr11:67181009-67181038	ENSG00000255698.1
2	lnc-CARNS1-2	chr11:67182839-67182957	NONHSAT022419
3	lnc-CARNS1-2	chr11:67182439-67182687	NONHSAT022419
4	lnc-CARNS1-1	chr11:67180162-67180443	ENSG00000255698.1

No data

Variant related genes	Relation type
TBC1D10C	TF binding region
RPS6KB2	TF binding region
PPP1CA	TF binding region
CARNS1	TF binding region
TBC1D10C	CpG island
RPS6KB2	CpG island
PPP1CA	CpG island
CARNS1	CpG island
ENSG00000110422	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000140406	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000183648	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000221566	chromatin interactions
ENSG00000244152	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000261884	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000141905	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000158987	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000205220	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000105401	chromatin interactions
ENSG00000165934	chromatin interactions

Extended variants
information (count: 969 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1638586	chr11:67174597-67174598	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556789319	chr11:67174599-67174600	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs575049158	chr11:67174623-67174624	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs566350299	chr11:67174628-67174629	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs576988059	chr11:67174629-67174630	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs540856581	chr11:67174656-67174657	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs554174062	chr11:67174734-67174735	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs145973830	chr11:67174780-67174781	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs190310367	chr11:67174781-67174782	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs564837060	chr11:67174815-67174816	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs11227785	chr11:67174881-67174882	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544097274	chr11:67174969-67174970	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs562767379	chr11:67174999-67175000	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs530050204	chr11:67175036-67175037	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs548599408	chr11:67175037-67175038	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs560512366	chr11:67175094-67175095	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs541818524	chr11:67175163-67175164	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs527696892	chr11:67175248-67175249	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs552594512	chr11:67175268-67175269	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs570880363	chr11:67175313-67175314	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs538402783	chr11:67175317-67175318	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs550144931	chr11:67175332-67175333	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs568395501	chr11:67175337-67175338	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs35121740	chr11:67175349-67175350	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554131152	chr11:67175363-67175364	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs558216642	chr11:67175430-67175431	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs572462667	chr11:67175456-67175457	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs533554900	chr11:67175583-67175584	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs77851198	chr11:67175648-67175649	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs376451538	chr11:67175675-67175676	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs10896172	chr11:67175692-67175693	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs140114046	chr11:67175725-67175726	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs562569684	chr11:67175752-67175753	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs574776114	chr11:67175830-67175831	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs542105635	chr11:67175841-67175842	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs181471123	chr11:67175884-67175885	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs186206589	chr11:67175905-67175906	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs564673312	chr11:67175955-67175956	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs191350812	chr11:67175981-67175982	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs564591197	chr11:67176018-67176019	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs143823365	chr11:67176020-67176021	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs75846272	chr11:67176021-67176022	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs568353195	chr11:67176029-67176030	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs547248594	chr11:67176076-67176077	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs12574538	chr11:67176079-67176080	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs182669092	chr11:67176084-67176085	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs372744916	chr11:67176104-67176105	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs566053359	chr11:67176126-67176127	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs533746181	chr11:67176178-67176179	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs568758291	chr11:67176189-67176190	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2098 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169800-67174600	Weak transcription	HSMMtube	muscle
2	chr11:67169800-67175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:67169800-67175000	Weak transcription	Fetal Brain Male	brain
4	chr11:67169800-67176800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:67170000-67177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:67170000-67177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
10	chr11:67170200-67175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:67170200-67176600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:67171000-67176800	Weak transcription	Lung	lung
13	chr11:67171000-67177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:67171400-67176600	Weak transcription	Left Ventricle	heart
15	chr11:67171400-67177400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:67171600-67176000	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr11:67171600-67177200	Weak transcription	Pancreas	Pancrea
18	chr11:67171600-67177800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
19	chr11:67172000-67174800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:67172200-67177200	Weak transcription	Gastric	stomach
21	chr11:67172400-67175800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:67172400-67176800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:67172400-67177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
25	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:67172400-67178000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:67172600-67174800	Weak transcription	HSMM	muscle
28	chr11:67172600-67175600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:67172600-67177200	Weak transcription	Hela-S3	cervix
30	chr11:67172600-67177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:67172600-67177800	Weak transcription	K562	blood
32	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:67172800-67174600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:67172800-67175400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:67172800-67176400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
36	chr11:67172800-67176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:67172800-67177400	Genic enhancers	Spleen	Spleen
38	chr11:67173000-67174600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:67173000-67174800	Weak transcription	Brain Germinal Matrix	brain
40	chr11:67173000-67175000	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:67173000-67176000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
42	chr11:67173200-67174600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:67173200-67174600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:67173200-67175000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr11:67173200-67175200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:67173400-67177200	Weak transcription	Fetal Intestine Small	intestine
47	chr11:67173600-67174600	Active TSS	Brain Anterior Caudate	brain
48	chr11:67173600-67175400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
49	chr11:67173600-67176000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
50	chr11:67173800-67174600	Enhancers	GM12878-XiMat	blood

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