Variant report

Variant	esv3323089
Chromosome Location	chr11:64543376-64547574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:853)
CpG islands
(count:1038)
Chromatin interactive
region (count:76)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64546257-64546995	K562	blood:	n/a	chr11:64546891-64546907 chr11:64546890-64546906
2	ARID3A	chr11:64546100-64546574	HepG2	liver:	n/a	n/a
3	ATF1	chr11:64546094-64546800	K562	blood:	n/a	chr11:64546589-64546603
4	ATF2	chr11:64546042-64546833	H1-hESC	embryonic stem cell:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
5	ATF2	chr11:64546055-64546835	H1-hESC	embryonic stem cell:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
6	ATF2	chr11:64544981-64545298	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:64546059-64546924	GM12878	blood:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
8	ATF2	chr11:64546038-64547013	GM12878	blood:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
9	ATF3	chr11:64546309-64546819	K562	blood:	n/a	chr11:64546592-64546600 chr11:64546593-64546600 chr11:64546592-64546603 chr11:64546589-64546604 chr11:64546655-64546664
10	ATF3	chr11:64546069-64546985	A549	lung:	n/a	chr11:64546592-64546600 chr11:64546593-64546600 chr11:64546592-64546603 chr11:64546589-64546604 chr11:64546655-64546664
11	BCL3	chr11:64546086-64546906	A549	lung:	n/a	chr11:64546501-64546510
12	BCL3	chr11:64545913-64546766	A549	lung:	n/a	chr11:64546501-64546510
13	BCLAF1	chr11:64545684-64546622	GM12878	blood:	n/a	chr11:64546501-64546510
14	BDP1	chr11:64543481-64544074	Hela-S3	cervix:	n/a	n/a
15	BHLHE40	chr11:64545039-64545485	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:64545806-64546653	K562	blood:	n/a	n/a
17	BHLHE40	chr11:64545757-64546859	GM12878	blood:	n/a	n/a
18	BRCA1	chr11:64546166-64546631	HepG2	liver:	n/a	n/a
19	BRCA1	chr11:64545803-64546893	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:64546091-64546807	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr11:64546158-64546712	GM12878	blood:	n/a	n/a
22	CBX3	chr11:64544801-64545316	K562	blood:	n/a	n/a
23	CBX3	chr11:64545790-64546762	K562	blood:	n/a	n/a
24	CCNT2	chr11:64545057-64546707	K562	blood:	n/a	chr11:64546407-64546416 chr11:64546642-64546651 chr11:64546277-64546286
25	CEBPB	chr11:64547073-64547112	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr11:64546330-64546859	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:64546289-64546935	K562	blood:	n/a	chr11:64546319-64546327
28	CEBPB	chr11:64546138-64547124	Hela-S3	cervix:	n/a	chr11:64546319-64546327
29	CEBPD	chr11:64545026-64545350	HepG2	liver:	n/a	n/a
30	CEBPD	chr11:64546078-64546269	HepG2	liver:	n/a	n/a
31	CEBPD	chr11:64545789-64546354	HepG2	liver:	n/a	n/a
32	CHD1	chr11:64546665-64546926	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr11:64544614-64544974	GM12878	blood:	n/a	n/a
34	CHD1	chr11:64545446-64547278	GM12878	blood:	n/a	chr11:64546633-64546643
35	CHD1	chr11:64545814-64545982	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr11:64544712-64545095	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr11:64544920-64545164	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:64545887-64546793	H1-hESC	embryonic stem cell:	n/a	chr11:64546633-64546643
39	CHD2	chr11:64545049-64545407	Hela-S3	cervix:	n/a	chr11:64545244-64545254
40	CHD2	chr11:64545812-64546710	HepG2	liver:	n/a	chr11:64546633-64546643
41	CHD2	chr11:64545775-64546809	GM12878	blood:	n/a	chr11:64546633-64546643
42	CHD2	chr11:64545360-64545489	GM12878	blood:	n/a	n/a
43	CHD2	chr11:64545784-64546747	K562	blood:	n/a	chr11:64546633-64546643
44	CHD2	chr11:64545719-64546802	Hela-S3	cervix:	n/a	chr11:64546633-64546643
45	CREB1	chr11:64545947-64546835	ECC-1	luminal epithelium:	n/a	chr11:64546590-64546603
46	CREB1	chr11:64544874-64547008	HepG2	liver:	n/a	chr11:64546590-64546603
47	CREB1	chr11:64545705-64546874	GM12878	blood:	n/a	chr11:64546590-64546603
48	CREB1	chr11:64546073-64546728	A549	lung:	n/a	chr11:64546590-64546603
49	CREB1	chr11:64545753-64546928	HepG2	liver:	n/a	chr11:64546590-64546603
50	CREB1	chr11:64546114-64546889	ECC-1	luminal epithelium:	n/a	chr11:64546590-64546603

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64546469-64546519	Jurkat	blood:	n/a
2	chr11:64546469-64546519	Jurkat	blood:	n/a
3	chr11:64546106-64546156	GM12878	blood:	n/a
4	chr11:64546368-64546418	HL-60	blood:	n/a
5	chr11:64543849-64543899	HEEpiC	esophagus:	n/a
6	chr11:64545585-64545635	T-47D	breast:	n/a
7	chr11:64546243-64546293	HRE	kidney:	n/a
8	chr11:64546100-64546150	U87	brain:	n/a
9	chr11:64546224-64546274	AoSMC	blood vessel:	n/a
10	chr11:64545631-64545681	K562	blood:	n/a
11	chr11:64546224-64546274	PFSK-1	brain:	n/a
12	chr11:64546304-64546354	HRPEpiC	eye:	n/a
13	chr11:64546534-64546584	LNCaP	prostate:	n/a
14	chr11:64544080-64544130	BE2_C	brain:	n/a
15	chr11:64546351-64546401	SK-N-MC	brain:	n/a
16	chr11:64544080-64544130	T-47D	breast:	n/a
17	chr11:64546383-64546433	MCF10A-Er-Src	breast:	n/a
18	chr11:64546243-64546293	IMR90	lung:	fetal
19	chr11:64546106-64546156	HNPCEpiC	eye:	n/a
20	chr11:64546368-64546418	HAEpiC	amniotic membrane:	n/a
21	chr11:64543849-64543899	T-47D	breast:	n/a
22	chr11:64546224-64546274	PrEC	prostate:	n/a
23	chr11:64546534-64546584	HCPEpiC	choroid plexus:	n/a
24	chr11:64546351-64546401	HEEpiC	esophagus:	n/a
25	chr11:64543849-64543899	AG10803	skin:	n/a
26	chr11:64546109-64546159	AoSMC	blood vessel:	n/a
27	chr11:64543849-64543899	HRE	kidney:	n/a
28	chr11:64546224-64546274	GM12892	blood:	n/a
29	chr11:64546224-64546274	H1-hESC	embryonic stem cell:	embryo
30	chr11:64546351-64546401	SKMC	muscle:	n/a
31	chr11:64546106-64546156	HCM	heart:	n/a
32	chr11:64546100-64546150	T-47D	breast:	n/a
33	chr11:64546383-64546433	PrEC	prostate:	n/a
34	chr11:64546469-64546519	HCF	heart:	n/a
35	chr11:64544080-64544130	SKMC	muscle:	n/a
36	chr11:64546383-64546433	ECC-1	luminal epithelium:	n/a
37	chr11:64546224-64546274	PANC-1	pancreas:	n/a
38	chr11:64543849-64543899	HAEpiC	amniotic membrane:	n/a
39	chr11:64545631-64545681	SK-N-SH	brain:	n/a
40	chr11:64546100-64546150	AG10803	skin:	n/a
41	chr11:64546383-64546433	GM12891	blood:	n/a
42	chr11:64545585-64545635	GM19239	blood:	n/a
43	chr11:64546109-64546159	HIPEpiC	eye:	n/a
44	chr11:64546106-64546156	MCF10A-Er-Src	breast:	n/a
45	chr11:64544080-64544130	PANC-1	pancreas:	n/a
46	chr11:64546243-64546293	AG10803	skin:	n/a
47	chr11:64546469-64546519	NT2-D1	testis:	n/a
48	chr11:64546106-64546156	ovcar-3	ovarian:	n/a
49	chr11:64546304-64546354	IMR90	lung:	fetal
50	chr11:64546100-64546150	HMEC	breast:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:64542963..64545038-chr11:64555402..64557551,2	MCF-7	breast:
2	chr11:64490193..64492198-chr11:64544563..64546459,2	MCF-7	breast:
3	chr11:64545301..64547974-chr11:64645436..64647559,2	MCF-7	breast:
4	chr11:64545307..64546190-chr19:36235841..36236593,2	Hela-S3	cervix:
5	chr11:64544574..64547411-chr11:64891542..64893399,2	MCF-7	breast:
6	11:64544826-64559210..11:64658316-64660295	GM12878	blood:
7	chr11:64546052..64548172-chr11:64880141..64881711,2	MCF-7	breast:
8	chr11:64545248..64547245-chr11:64807000..64808581,2	MCF-7	breast:
9	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
10	chr11:64544185..64546327-chr11:64562528..64564348,2	K562	blood:
11	chr11:64017295..64020181-chr11:64543928..64546600,2	MCF-7	breast:
12	chr11:64544644..64548990-chr11:64609868..64612302,3	K562	blood:
13	chr1:109642638..109643482-chr11:64545224..64546308,3	Hela-S3	cervix:
14	chr11:64547318..64550261-chr11:64659912..64662023,2	MCF-7	breast:
15	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
16	chr11:64545306..64546181-chr17:4870736..4871526,2	Hela-S3	cervix:
17	chr11:64545690..64546308-chr19:4400061..4400660,2	Hela-S3	cervix:
18	chr11:64545391..64546081-chr21:40685867..40686815,2	NB4	blood:
19	chr11:64544371..64546795-chr11:65624012..65625591,2	K562	blood:
20	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
21	chr11:64545114..64546892-chr11:65188018..65190269,2	K562	blood:
22	chr11:64544849..64546824-chr11:64622424..64625371,2	K562	blood:
23	chr11:64008164..64010074-chr11:64544584..64546736,2	MCF-7	breast:
24	chr11:64510354..64515027-chr11:64543156..64548358,11	K562	blood:
25	chr11:64543733..64546506-chr11:64646290..64648884,3	K562	blood:
26	chr11:64547314..64550018-chr11:64569842..64572705,2	MCF-7	breast:
27	11:64523887-64530985..11:64544271-64544826	Hela-S3	cervix:
28	chr11:64545702..64546217-chr7:112090322..112091021,2	HCT-116	colon:
29	chr11:64544232..64545982-chr11:64875134..64877801,2	MCF-7	breast:
30	chr11:64543733..64546227-chr11:64645757..64648257,3	K562	blood:
31	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
32	chr11:64546932..64549116-chr11:64555814..64557737,2	MCF-7	breast:
33	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
34	chr11:64544683..64548200-chr11:64565443..64572182,16	MCF-7	breast:
35	chr11:64544868..64546634-chr11:64879312..64880839,2	K562	blood:
36	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
37	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
38	chr11:64544182..64546603-chr11:64644783..64646727,4	MCF-7	breast:
39	chr11:64509537..64511345-chr11:64541994..64543895,2	MCF-7	breast:
40	chr11:64547391..64549709-chr11:64565608..64568121,2	MCF-7	breast:
41	chr11:64541144..64543717-chr11:64570009..64571902,2	MCF-7	breast:
42	chr11:64545581..64546435-chr2:20646790..20647326,2	Hela-S3	cervix:
43	chr11:64545644..64546319-chr17:8058969..8059925,2	Hela-S3	cervix:
44	chr11:64544026..64547354-chr11:64610476..64614597,11	MCF-7	breast:
45	chr11:64544768..64548246-chr11:64552203..64559348,13	K562	blood:
46	chr11:64545623..64546334-chrX:108976444..108977379,2	NB4	blood:
47	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
48	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
49	chr11:64545086..64548013-chr11:64793511..64795283,2	K562	blood:
50	chr11:64544925..64547758-chr20:62611021..62613328,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R5B-5	chr11:64546426-64546877	ENSG00000269038.1
2	lnc-PPP2R5B-5	chr11:64546318-64548591	NONHSAT022024

No data

Variant related genes	Relation type
ENSG00000269038	TF binding region
SF1	TF binding region
ENSG00000269038	CpG island
SF1	CpG island
ENSG00000006652	chromatin interactions
ENSG00000269290	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000174516	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000171219	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000130590	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000141985	chromatin interactions
ENSG00000068831	chromatin interactions
ENSG00000161265	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000188223	chromatin interactions
ENSG00000110076	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000110046	chromatin interactions
ENSG00000270066	chromatin interactions
ENSG00000174547	chromatin interactions
ENSG00000229719	chromatin interactions
ENSG00000262429	chromatin interactions
ENSG00000131931	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000133895	chromatin interactions
ENSG00000207648	chromatin interactions
ENSG00000068971	chromatin interactions
ENSG00000255173	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000168067	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000267120	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000110025	chromatin interactions
ENSG00000205155	chromatin interactions
ENSG00000068366	chromatin interactions
ENSG00000267804	chromatin interactions
ENSG00000068976	chromatin interactions
ENSG00000179094	chromatin interactions
ENSG00000101161	chromatin interactions
ENSG00000203400	chromatin interactions
ENSG00000270775	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000091640	chromatin interactions
ENSG00000172757	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71583708	chr11:64543393-64543394	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs185956768	chr11:64543403-64543404	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs143459107	chr11:64543422-64543423	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs189981134	chr11:64543424-64543425	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs148002794	chr11:64543451-64543452	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs71583709	chr11:64543456-64543457	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs542949963	chr11:64543496-64543497	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs550745088	chr11:64543509-64543510	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs569279519	chr11:64543513-64543514	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs80326046	chr11:64543514-64543515	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs201365693	chr11:64543515-64543516	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs621723	chr11:64543567-64543568	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558967877	chr11:64543575-64543576	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs559637868	chr11:64543589-64543590	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs182483110	chr11:64543621-64543622	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs186487339	chr11:64543635-64543636	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs190982857	chr11:64543665-64543666	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs530402088	chr11:64543694-64543695	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs544155785	chr11:64543761-64543762	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs563728825	chr11:64543770-64543771	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs58716834	chr11:64543780-64543781	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs573048984	chr11:64543786-64543787	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs552507040	chr11:64543789-64543790	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs565723991	chr11:64543820-64543821	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs545225867	chr11:64543835-64543836	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs374271909	chr11:64543842-64543843	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs182600894	chr11:64543847-64543848	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs375200360	chr11:64543875-64543876	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs11231868	chr11:64543901-64543902	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs536942660	chr11:64543918-64543919	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs530657239	chr11:64543927-64543928	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs398048305	chr11:64543928-64543929	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs201525687	chr11:64543929-64543930	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs141689655	chr11:64543953-64543954	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs377508417	chr11:64543960-64543961	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs370714764	chr11:64544001-64544002	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs11547305	chr11:64544014-64544015	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs138366036	chr11:64544037-64544038	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs34992914	chr11:64544063-64544064	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs35100425	chr11:64544082-64544083	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs192580277	chr11:64544091-64544092	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs199902591	chr11:64544094-64544095	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs375238806	chr11:64544102-64544103	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs138969627	chr11:64544109-64544110	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs368016566	chr11:64544123-64544124	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs41394445	chr11:64544134-64544135	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	mRNA abundance
47	rs474707	chr11:64544135-64544136	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs574932890	chr11:64544172-64544173	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs543750238	chr11:64544182-64544183	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs112101029	chr11:64544191-64544192	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	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
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Chronic lymphocytic leukemia	22228453	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
2	chr11:64529800-64543600	Strong transcription	Fetal Lung	lung
3	chr11:64529800-64543600	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr11:64530000-64543400	Strong transcription	Fetal Intestine Large	intestine
5	chr11:64530400-64544200	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr11:64530600-64544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64531400-64543600	Strong transcription	NHDF-Ad	bronchial
8	chr11:64532000-64543600	Strong transcription	HSMM	muscle
9	chr11:64532000-64543800	Strong transcription	Osteobl	bone
10	chr11:64532000-64544000	Strong transcription	Colonic Mucosa	Colon
11	chr11:64532000-64544000	Strong transcription	Fetal Stomach	stomach
12	chr11:64532400-64543400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:64532400-64543600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr11:64532400-64543600	Strong transcription	NH-A	brain
15	chr11:64532400-64543800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:64532400-64544000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:64532600-64543600	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr11:64532600-64544200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:64532600-64544400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:64532800-64543600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:64532800-64543600	Strong transcription	NHEK	skin
22	chr11:64532800-64543800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:64532800-64544200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr11:64533200-64543600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:64533200-64543600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr11:64533200-64543800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:64533400-64543600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:64534200-64543600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:64534600-64544200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:64534800-64544000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:64535000-64543600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr11:64535200-64543600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:64535400-64544000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:64535600-64543400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:64535600-64543800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:64535800-64543600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:64535800-64544000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:64535800-64544200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:64537800-64544200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:64537800-64544200	Genic enhancers	Colon Smooth Muscle	Colon
41	chr11:64537800-64544400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:64538200-64543600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:64538600-64543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:64538800-64543800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:64538800-64544400	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:64539000-64543600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:64539000-64543800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:64539000-64544000	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr11:64539200-64544200	Genic enhancers	Brain Hippocampus Middle	brain
50	chr11:64539400-64543600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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