Variant report

Variant	esv3423373
Chromosome Location	chr11:62368801-62371349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:597)
CpG islands
(count:732)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:62368970-62369419	GM12878	blood:	n/a	n/a
2	ATF2	chr11:62369431-62369874	GM12878	blood:	n/a	n/a
3	BACH1	chr11:62369479-62370585	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr11:62368532-62369687	A549	lung:	n/a	chr11:62368925-62368938 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221 chr11:62369660-62369673
5	BCL3	chr11:62368909-62369613	GM12878	blood:	n/a	chr11:62368925-62368938 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221
6	BCLAF1	chr11:62368316-62369411	GM12878	blood:	n/a	chr11:62368925-62368938 chr11:62368407-62368416 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221
7	BCLAF1	chr11:62368916-62369806	GM12878	blood:	n/a	chr11:62368925-62368938 chr11:62368931-62368940 chr11:62369058-62369067 chr11:62369212-62369221 chr11:62369660-62369673
8	BHLHE40	chr11:62369045-62369702	GM12878	blood:	n/a	chr11:62369244-62369260
9	BHLHE40	chr11:62369215-62370370	K562	blood:	n/a	chr11:62369244-62369260
10	BRCA1	chr11:62369087-62369939	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr11:62369403-62369634	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr11:62369413-62369629	GM12878	blood:	n/a	n/a
13	BRCA1	chr11:62368829-62368850	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr11:62369311-62370243	K562	blood:	n/a	n/a
15	CCNT2	chr11:62368234-62370496	K562	blood:	n/a	chr11:62369634-62369643 chr11:62369213-62369222 chr11:62368573-62368582 chr11:62369439-62369448
16	CEBPB	chr11:62369263-62369892	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:62369482-62369638	K562	blood:	n/a	n/a
18	CEBPB	chr11:62370514-62370522	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPD	chr11:62369043-62369360	HepG2	liver:	n/a	n/a
20	CHD1	chr11:62368963-62368993	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr11:62368040-62368984	GM12878	blood:	n/a	chr11:62368807-62368817 chr11:62368545-62368555
22	CHD1	chr11:62365894-62370422	IMR90	lung:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
23	CHD2	chr11:62369145-62370003	K562	blood:	n/a	chr11:62369509-62369519
24	CHD2	chr11:62369036-62369075	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr11:62368720-62368891	HepG2	liver:	n/a	chr11:62368807-62368817
26	CHD2	chr11:62368532-62369732	GM12878	blood:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
27	CHD2	chr11:62368499-62370091	Hela-S3	cervix:	n/a	chr11:62369509-62369519 chr11:62368807-62368817 chr11:62368545-62368555
28	CHD2	chr11:62369407-62369636	HepG2	liver:	n/a	chr11:62369509-62369519
29	CHD2	chr11:62370092-62370259	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr11:62369350-62369874	H1-hESC	embryonic stem cell:	n/a	chr11:62369509-62369519
31	CREB1	chr11:62369710-62369988	A549	lung:	n/a	n/a
32	CREB1	chr11:62368548-62369296	A549	lung:	n/a	n/a
33	CTBP2	chr11:62368974-62370850	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:62369460-62369610	HMEC	breast:	n/a	n/a
35	CTCF	chr11:62369382-62369638	GM12878	blood:	n/a	n/a
36	CTCF	chr11:62369800-62369950	GM12875	blood:	n/a	n/a
37	CTCF	chr11:62369940-62370090	HRE	kidney:	n/a	n/a
38	CTCF	chr11:62369480-62369630	AG09319	gingival:	n/a	n/a
39	CTCF	chr11:62369491-62369583	K562	blood:	n/a	n/a
40	CTCF	chr11:62369460-62369610	SAEC	small airway:	n/a	n/a
41	CTCF	chr11:62370160-62370310	HRE	kidney:	n/a	n/a
42	CTCF	chr11:62369437-62369605	GM12878	blood:	n/a	n/a
43	CTCF	chr11:62370240-62370390	HAc	cerebellar:	n/a	n/a
44	CTCF	chr11:62370200-62370350	AG04449	skin:	n/a	n/a
45	CTCF	chr11:62370240-62370390	AG09319	gingival:	n/a	n/a
46	CTCF	chr11:62369513-62369609	GM12892	blood:	n/a	n/a
47	CTCF	chr11:62370260-62370410	Caco-2	colon:	n/a	n/a
48	CTCF	chr11:62369978-62370121	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:62369500-62369650	HMEC	breast:	n/a	n/a
50	CTCF	chr11:62369309-62369531	Spleen_OC	spleen:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62369870-62369920	ProgFib	skin:	n/a
2	chr11:62369394-62369444	HepG2	liver:	n/a
3	chr11:62369394-62369444	HRE	kidney:	n/a
4	chr11:62368881-62368931	CMK	blood:	n/a
5	chr11:62369859-62369909	HNPCEpiC	eye:	n/a
6	chr11:62369460-62369510	BE2_C	brain:	n/a
7	chr11:62369172-62369222	NH-A	brain:	n/a
8	chr11:62368881-62368931	A549	lung:	n/a
9	chr11:62369490-62369540	HepG2	liver:	n/a
10	chr11:62369728-62369778	SAEC	small airway:	n/a
11	chr11:62369870-62369920	H1-hESC	embryonic stem cell:	embryo
12	chr11:62369859-62369909	HIPEpiC	eye:	n/a
13	chr11:62369541-62369591	U87	brain:	n/a
14	chr11:62369172-62369222	HRCEpiC	kidney:	n/a
15	chr11:62369541-62369591	HCPEpiC	choroid plexus:	n/a
16	chr11:62369394-62369444	NB4	blood:	n/a
17	chr11:62369079-62369129	T-47D	breast:	n/a
18	chr11:62369460-62369510	ProgFib	skin:	n/a
19	chr11:62369172-62369222	HEEpiC	esophagus:	n/a
20	chr11:62370490-62370540	IMR90	lung:	fetal
21	chr11:62369394-62369444	ProgFib	skin:	n/a
22	chr11:62369728-62369778	BE2_C	brain:	n/a
23	chr11:62368881-62368931	ECC-1	luminal epithelium:	n/a
24	chr11:62369541-62369591	HRPEpiC	eye:	n/a
25	chr11:62370490-62370540	GM12891	blood:	n/a
26	chr11:62369079-62369129	U87	brain:	n/a
27	chr11:62370246-62370296	AG04449	skin:	fetal
28	chr11:62369079-62369129	NHBE	bronchial:	n/a
29	chr11:62369859-62369909	PFSK-1	brain:	n/a
30	chr11:62369859-62369909	HMEC	breast:	n/a
31	chr11:62369870-62369920	Hepatocyte	liver:	n/a
32	chr11:62370490-62370540	PFSK-1	brain:	n/a
33	chr11:62369728-62369778	HAEpiC	amniotic membrane:	n/a
34	chr11:62369859-62369909	HUVEC	blood vessel:	n/a
35	chr11:62370246-62370296	IMR90	lung:	fetal
36	chr11:62370246-62370296	MCF10A-Er-Src	breast:	n/a
37	chr11:62370246-62370296	HCF	heart:	n/a
38	chr11:62369870-62369920	GM12892	blood:	n/a
39	chr11:62370246-62370296	Hepatocyte	liver:	n/a
40	chr11:62369460-62369510	U87	brain:	n/a
41	chr11:62369394-62369444	PANC-1	pancreas:	n/a
42	chr11:62369490-62369540	AG09319	gingival:	n/a
43	chr11:62370490-62370540	AoSMC	blood vessel:	n/a
44	chr11:62368881-62368931	AG04449	skin:	fetal
45	chr11:62370246-62370296	HCT-116	colon:	n/a
46	chr11:62369490-62369540	HCPEpiC	choroid plexus:	n/a
47	chr11:62369541-62369591	PFSK-1	brain:	n/a
48	chr11:62369870-62369920	SK-N-SH_RA	brain:	n/a
49	chr11:62368881-62368931	HEEpiC	esophagus:	n/a
50	chr11:62369541-62369591	T-47D	breast:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62366839..62369029-chr11:62472927..62475049,2	MCF-7	breast:
2	chr11:62367890..62370349-chr11:62493262..62495403,4	K562	blood:
3	chr11:62367343..62369766-chr11:62446126..62447935,2	MCF-7	breast:
4	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
5	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
6	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
7	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
8	chr11:62367943..62370017-chr11:62571875..62574574,2	K562	blood:
9	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
10	chr11:62368326..62369108-chr11:62379751..62380601,2	MCF-7	breast:
11	chr11:62369006..62369884-chr5:40834874..40835819,3	Hela-S3	cervix:
12	chr11:62366955..62369844-chr11:62535933..62538904,2	K562	blood:
13	chr11:62367185..62372634-chr11:62607154..62610784,6	MCF-7	breast:
14	chr11:62365870..62369296-chr11:62605447..62609594,6	K562	blood:
15	chr11:62366079..62370074-chr11:62386678..62390504,7	MCF-7	breast:
16	chr11:62366910..62368974-chr11:62608295..62610836,2	MCF-7	breast:
17	chr11:62369298..62371279-chr11:62444264..62446347,2	MCF-7	breast:
18	chr11:62368856..62371722-chr11:62553192..62555886,2	MCF-7	breast:
19	chr11:62367640..62370552-chr11:62646699..62650475,4	K562	blood:
20	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
21	chr11:62369562..62370451-chr8:64080633..64081331,2	Hela-S3	cervix:
22	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
23	chr11:62366145..62371000-chr11:62493302..62496531,6	K562	blood:
24	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
25	chr11:62368550..62369244-chr17:74099398..74100291,2	NB4	blood:
26	chr11:62367785..62371189-chr11:62419322..62422312,3	K562	blood:
27	chr11:62365983..62370724-chr11:62412063..62418373,9	K562	blood:
28	chr11:62369307..62371737-chr11:62414027..62416633,2	MCF-7	breast:
29	chr11:62368748..62369380-chr17:80186714..80187226,2	NB4	blood:
30	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
31	chr11:9482300..9482841-chr11:62369140..62369848,2	Hela-S3	cervix:
32	chr11:62371327..62373689-chr11:62412733..62415547,2	MCF-7	breast:
33	chr11:62367786..62371340-chr11:62553206..62555734,4	K562	blood:
34	chr11:62368980..62371340-chr11:62553420..62555734,2	K562	blood:
35	chr11:62367818..62370152-chr11:64017422..64019610,2	MCF-7	breast:
36	chr11:62371312..62376313-chr11:62493293..62497173,4	MCF-7	breast:
37	chr11:62366894..62368811-chr11:62572540..62574175,2	MCF-7	breast:
38	chr11:62368512..62370789-chr11:62571314..62573375,3	K562	blood:
39	chr11:62359044..62359737-chr11:62368478..62369085,2	MCF-7	breast:
40	chr11:62368041..62369560-chr11:62472282..62474702,2	K562	blood:
41	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
42	chr11:62365873..62371127-chr11:62605447..62611263,11	K562	blood:
43	chr11:62365951..62369565-chr11:62622521..62625872,5	K562	blood:
44	chr11:62370780..62373871-chr11:62607521..62610506,3	K562	blood:
45	chr11:62370041..62371967-chr11:62445972..62447850,2	K562	blood:
46	chr11:62367022..62370613-chr11:62412660..62415093,5	MCF-7	breast:
47	chr10:3214498..3215290-chr11:62369018..62369891,2	Hela-S3	cervix:
48	chr11:62366402..62370002-chr11:62419166..62421218,5	MCF-7	breast:
49	chr11:62367086..62370916-chr11:62552894..62556677,4	MCF-7	breast:
50	chr1:228353364..228354189-chr11:62369412..62370084,2	Hela-S3	cervix:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EML3	hsa-miR-1	chr11:62369827-62369848
2	EML3	hsa-miR-1	chr11:62369833-62369827

Variant related genes	Relation type
ENSG00000254964	TF binding region
EML3	TF binding region
MTA2	TF binding region
ENSG00000254964	CpG island
EML3	CpG island
MTA2	CpG island
ENSG00000255508	chromatin interactions
ENSG00000149499	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000182473	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000185728	chromatin interactions
ENSG00000168000	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000089597	chromatin interactions
ENSG00000107959	chromatin interactions
ENSG00000269176	chromatin interactions
ENSG00000204922	chromatin interactions
ENSG00000162227	chromatin interactions
ENSG00000234857	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000162191	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000149541	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000270673	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000149489	chromatin interactions
ENSG00000162222	chromatin interactions
ENSG00000149016	chromatin interactions
ENSG00000214753	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545999414	chr11:62368814-62368815	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
2	rs200954205	chr11:62368848-62368849	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
3	rs573189798	chr11:62368860-62368861	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
4	rs200215726	chr11:62368871-62368872	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
5	rs375749330	chr11:62368933-62368934	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
6	rs202075546	chr11:62368939-62368940	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
7	rs368313496	chr11:62368957-62368958	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
8	rs371640516	chr11:62368958-62368959	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
9	rs371611790	chr11:62368962-62368963	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
10	rs202182836	chr11:62369016-62369017	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
11	rs12226821	chr11:62369018-62369019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs533373742	chr11:62369028-62369029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
13	rs12277678	chr11:62369136-62369137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs367771021	chr11:62369150-62369151	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs546808740	chr11:62369153-62369154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs2427644	chr11:62369173-62369174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs529565950	chr11:62369203-62369204	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
18	rs372695297	chr11:62369239-62369240	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
19	rs549650556	chr11:62369253-62369254	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs569197815	chr11:62369279-62369280	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
21	rs538224799	chr11:62369346-62369347	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs558311551	chr11:62369348-62369349	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
23	rs143596378	chr11:62369363-62369364	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
24	rs534251451	chr11:62369375-62369376	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs559139281	chr11:62369377-62369378	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs148045703	chr11:62369388-62369389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs572945433	chr11:62369405-62369406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
28	rs12049914	chr11:62369436-62369437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs56038933	chr11:62369442-62369443	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
30	rs555624093	chr11:62369444-62369445	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
31	rs140809281	chr11:62369461-62369462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
32	rs544170893	chr11:62369471-62369472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
33	rs563707746	chr11:62369477-62369478	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs532875432	chr11:62369484-62369485	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs533373486	chr11:62369503-62369504	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs150224039	chr11:62369504-62369505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
37	rs574337858	chr11:62369512-62369513	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs374273160	chr11:62369541-62369542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs560363581	chr11:62369555-62369556	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs561413791	chr11:62369622-62369623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
41	rs111661223	chr11:62369631-62369632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
42	rs186160273	chr11:62369636-62369637	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
43	rs3809080	chr11:62369654-62369655	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
44	rs549447095	chr11:62369687-62369688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
45	rs530375874	chr11:62369809-62369810	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
46	rs569512783	chr11:62369856-62369857	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
47	rs540232834	chr11:62369862-62369863	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs200905340	chr11:62369880-62369881	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
49	rs200234150	chr11:62369881-62369882	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
50	rs35880596	chr11:62369884-62369885	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	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
Myelofibrosis	22110671	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	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62367000-62369200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:62367200-62369200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:62367400-62369600	Active TSS	HMEC	breast
4	chr11:62367400-62369600	Active TSS	NHEK	skin
5	chr11:62367600-62370000	Active TSS	Right Atrium	heart
6	chr11:62367600-62370400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:62367600-62370600	Active TSS	Ovary	ovary
8	chr11:62367600-62370800	Active TSS	Aorta	Aorta
9	chr11:62367800-62369400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:62367800-62369400	Active TSS	NH-A	brain
11	chr11:62367800-62369600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:62367800-62369600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:62367800-62369600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:62367800-62369600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:62367800-62369600	Active TSS	Lung	lung
16	chr11:62367800-62369600	Active TSS	Thymus	Thymus
17	chr11:62367800-62370000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:62367800-62370000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:62367800-62370200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:62367800-62370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:62367800-62370200	Active TSS	Fetal Kidney	kidney
22	chr11:62367800-62370600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:62367800-62370600	Active TSS	Psoas Muscle	Psoas
24	chr11:62368000-62369400	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr11:62368000-62369600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:62368000-62369600	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:62368000-62369600	Active TSS	GM12878-XiMat	blood
28	chr11:62368000-62369600	Active TSS	NHLF	lung
29	chr11:62368000-62370000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:62368000-62370000	Active TSS	Gastric	stomach
31	chr11:62368000-62370000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr11:62368000-62370200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:62368200-62369400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
34	chr11:62368200-62369600	Active TSS	H1 Cell Line	embryonic stem cell
35	chr11:62368200-62369600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:62368200-62369600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:62368200-62369600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:62368200-62369600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:62368200-62369600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:62368200-62369600	Active TSS	Stomach Mucosa	stomach
41	chr11:62368200-62369600	Active TSS	HUVEC	blood vessel
42	chr11:62368200-62369600	Active TSS	K562	blood
43	chr11:62368200-62369600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:62368200-62369800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:62368200-62369800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr11:62368200-62369800	Active TSS	Pancreas	Pancrea
47	chr11:62368200-62370000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:62368200-62370000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:62368200-62370000	Active TSS	Left Ventricle	heart
50	chr11:62368200-62370000	Active TSS	Right Ventricle	heart

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