Variant report

Variant	esv3411132
Chromosome Location	chr11:65305401-65308149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:651)
CpG islands
(count:488)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:65307666-65308170	GM12878	blood:	n/a	n/a
2	ATF2	chr11:65307632-65308275	GM12878	blood:	n/a	n/a
3	ATF2	chr11:65306340-65306689	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:65307823-65307979	K562	blood:	n/a	n/a
5	BACH1	chr11:65306552-65308642	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:65307673-65308736	A549	lung:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
7	BCL3	chr11:65306972-65307292	GM12878	blood:	n/a	n/a
8	BCL3	chr11:65307636-65308628	A549	lung:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
9	BCL3	chr11:65306484-65306830	GM12878	blood:	n/a	n/a
10	BCLAF1	chr11:65307706-65308230	GM12878	blood:	n/a	chr11:65307943-65307952
11	BCLAF1	chr11:65307656-65308685	GM12878	blood:	n/a	chr11:65308316-65308329 chr11:65308271-65308284 chr11:65307943-65307952
12	BHLHE40	chr11:65307621-65308613	GM12878	blood:	n/a	chr11:65308243-65308259 chr11:65308113-65308129
13	BHLHE40	chr11:65307688-65308646	K562	blood:	n/a	chr11:65308243-65308259 chr11:65308113-65308129
14	BRCA1	chr11:65307831-65308039	GM12878	blood:	n/a	n/a
15	BRCA1	chr11:65307061-65307128	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr11:65307672-65307813	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr11:65307648-65308699	K562	blood:	n/a	n/a
18	CCNT2	chr11:65306096-65306126	K562	blood:	n/a	n/a
19	CCNT2	chr11:65307602-65308635	K562	blood:	n/a	chr11:65308191-65308200 chr11:65307673-65307682
20	CEBPB	chr11:65307639-65308146	GM12878	blood:	n/a	n/a
21	CEBPB	chr11:65307907-65308107	K562	blood:	n/a	n/a
22	CEBPB	chr11:65308147-65308811	A549	lung:	n/a	n/a
23	CHD1	chr11:65307685-65308173	GM12878	blood:	n/a	n/a
24	CHD2	chr11:65307739-65308718	GM12878	blood:	n/a	chr11:65308309-65308319
25	CHD2	chr11:65307394-65307486	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:65307572-65308635	Hela-S3	cervix:	n/a	chr11:65308309-65308319
27	CREB1	chr11:65307109-65308664	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr11:65307821-65308392	A549	lung:	n/a	n/a
29	CTBP2	chr11:65306801-65307540	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:65307578-65308136	GM12892	blood:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949
31	CTCF	chr11:65307700-65307850	GM12870	blood:	n/a	n/a
32	CTCF	chr11:65307720-65307870	GM12871	blood:	n/a	n/a
33	CTCF	chr11:65307700-65307850	GM12865	blood:	n/a	n/a
34	CTCF	chr11:65307700-65307850	HRE	kidney:	n/a	n/a
35	CTCF	chr11:65307667-65307843	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr11:65307657-65308074	Lung_OC	lung:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949
37	CTCF	chr11:65307720-65307870	GM12872	blood:	n/a	n/a
38	CTCF	chr11:65307680-65307830	HCT-116	colon:	n/a	n/a
39	CTCF	chr11:65305400-65305550	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr11:65307682-65308028	MCF-7	breast:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949
41	CTCF	chr11:65307740-65307890	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr11:65307640-65307790	BE2_C	brain:	n/a	n/a
43	CTCF	chr11:65307720-65307870	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr11:65307700-65307850	GM12864	blood:	n/a	n/a
45	CTCF	chr11:65307680-65307830	HMF	breast:	n/a	n/a
46	CTCF	chr11:65307660-65307810	AG04450	lung:	n/a	n/a
47	CTCF	chr11:65307740-65307890	AG09319	gingival:	n/a	n/a
48	CTCF	chr11:65307845-65308038	A549	lung:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949
49	CTCF	chr11:65307709-65308063	Gliobla	brain:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949
50	CTCF	chr11:65307907-65307990	GM13976	blood:	n/a	chr11:65307933-65307951 chr11:65307936-65307949 chr11:65307936-65307949

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65307006-65307056	SKMC	muscle:	n/a
2	chr11:65307006-65307056	Hepatocyte	liver:	n/a
3	chr11:65307006-65307056	MCF-7	breast:	n/a
4	chr11:65307616-65307666	GM19239	blood:	n/a
5	chr11:65307791-65307841	A549	lung:	n/a
6	chr11:65306186-65306236	AG09319	gingival:	n/a
7	chr11:65306186-65306236	HAEpiC	amniotic membrane:	n/a
8	chr11:65307616-65307666	RPTEC	kidney:	n/a
9	chr11:65307006-65307056	HEK293	kidney:	embryo
10	chr11:65306186-65306236	Caco-2	colon:	n/a
11	chr11:65307616-65307666	Hepatocyte	liver:	n/a
12	chr11:65305575-65305625	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:65306731-65306781	H1-hESC	embryonic stem cell:	embryo
14	chr11:65306934-65306984	ECC-1	luminal epithelium:	n/a
15	chr11:65306934-65306984	Hela-S3	cervix:	n/a
16	chr11:65306116-65306166	HEK293	kidney:	embryo
17	chr11:65307616-65307666	GM12892	blood:	n/a
18	chr11:65305575-65305625	AG09309	skin:	n/a
19	chr11:65306116-65306166	NHDF-neo	bronchial:	n/a
20	chr11:65306731-65306781	AG10803	skin:	n/a
21	chr11:65307791-65307841	Jurkat	blood:	n/a
22	chr11:65305575-65305625	AG04450	lung:	fetal
23	chr11:65306731-65306781	HAEpiC	amniotic membrane:	n/a
24	chr11:65307616-65307666	HAEpiC	amniotic membrane:	n/a
25	chr11:65306186-65306236	GM19239	blood:	n/a
26	chr11:65306731-65306781	HCF	heart:	n/a
27	chr11:65306731-65306781	PFSK-1	brain:	n/a
28	chr11:65306186-65306236	HRPEpiC	eye:	n/a
29	chr11:65307791-65307841	HAEpiC	amniotic membrane:	n/a
30	chr11:65307616-65307666	AG10803	skin:	n/a
31	chr11:65306934-65306984	NT2-D1	testis:	n/a
32	chr11:65307791-65307841	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:65306731-65306781	K562	blood:	n/a
34	chr11:65307616-65307666	SK-N-SH_RA	brain:	n/a
35	chr11:65306116-65306166	HRCEpiC	kidney:	n/a
36	chr11:65306116-65306166	GM06990	blood:	n/a
37	chr11:65307006-65307056	GM19239	blood:	n/a
38	chr11:65307616-65307666	U87	brain:	n/a
39	chr11:65305575-65305625	SK-N-MC	brain:	n/a
40	chr11:65307791-65307841	HCPEpiC	choroid plexus:	n/a
41	chr11:65307616-65307666	AG04450	lung:	fetal
42	chr11:65306731-65306781	GM12891	blood:	n/a
43	chr11:65306186-65306236	A549	lung:	n/a
44	chr11:65306731-65306781	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:65305575-65305625	SKMC	muscle:	n/a
46	chr11:65306116-65306166	GM19239	blood:	n/a
47	chr11:65306934-65306984	HMEC	breast:	n/a
48	chr11:65305575-65305625	HNPCEpiC	eye:	n/a
49	chr11:65306731-65306781	HCPEpiC	choroid plexus:	n/a
50	chr11:65307616-65307666	HUVEC	blood vessel:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65307252..65310035-chr11:65625535..65628177,3	K562	blood:
2	chr11:65187744..65191441-chr11:65307194..65309813,3	MCF-7	breast:
3	chr11:65306570..65308318-chr11:65381821..65384190,3	K562	blood:
4	chr11:65307335..65308296-chr17:73775501..73776065,2	HCT-116	colon:
5	chr11:65183635..65190622-chr11:65305653..65310980,8	MCF-7	breast:
6	chr11:65262833..65264423-chr11:65305627..65307751,2	K562	blood:
7	chr11:65189854..65192035-chr11:65305464..65309123,3	K562	blood:
8	chr11:65307679..65310014-chr11:65429997..65432824,2	MCF-7	breast:
9	chr11:65306856..65307488-chr17:73150357..73151051,2	Hela-S3	cervix:
10	chr1:29063672..29064279-chr11:65307848..65308494,2	HCT-116	colon:
11	chr11:65307403..65309183-chr11:65336934..65338289,13	MCF-7	breast:
12	chr11:65307312..65308926-chr11:65339023..65340083,15	MCF-7	breast:
13	chr11:65307648..65308488-chr11:65318954..65319482,2	MCF-7	breast:
14	chr11:65307697..65309026-chr3:64008900..64009738,3	MCF-7	breast:
15	chr11:65263261..65267812-chr11:65306192..65309215,4	MCF-7	breast:
16	chr11:65266245..65270118-chr11:65305867..65309860,5	MCF-7	breast:
17	chr11:65307860..65308586-chr11:65319285..65320130,2	K562	blood:
18	chr11:65307609..65308998-chr11:65336892..65338725,9	K562	blood:
19	chr11:65308066..65308605-chr11:65337068..65337929,2	Hela-S3	cervix:
20	chr11:65307871..65308546-chr11:65343015..65343628,2	K562	blood:
21	chr11:65307310..65307872-chr11:65360978..65361533,2	MCF-7	breast:
22	chr11:65306623..65309907-chr11:65380382..65384254,6	MCF-7	breast:
23	chr11:65307733..65308892-chr11:65339050..65340029,8	K562	blood:
24	chr11:65306479..65309303-chr5:10247983..10249958,2	MCF-7	breast:
25	chr11:65100032..65102632-chr11:65307572..65309259,3	MCF-7	breast:

No data

Variant related genes	Relation type
LTBP3	TF binding region
LTBP3	CpG island
ENSG00000172732	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000260233	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000176973	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000133884	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000173442	chromatin interactions
ENSG00000198492	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000248968	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000173338	chromatin interactions
ENSG00000173327	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377514487	chr11:65305423-65305424	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs373952549	chr11:65305426-65305427	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs199946104	chr11:65305450-65305451	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs199514188	chr11:65305476-65305477	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370180815	chr11:65305536-65305537	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374521201	chr11:65305543-65305544	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368539269	chr11:65305548-65305549	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201172030	chr11:65305558-65305559	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201119677	chr11:65305564-65305565	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377014210	chr11:65305593-65305594	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576776296	chr11:65305605-65305606	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs202171988	chr11:65305606-65305607	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372503856	chr11:65305614-65305615	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375224224	chr11:65305644-65305645	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548862014	chr11:65305688-65305689	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369595890	chr11:65305689-65305690	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372453111	chr11:65305710-65305711	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568840063	chr11:65305722-65305723	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537431689	chr11:65305724-65305725	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56077405	chr11:65305757-65305758	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11548537	chr11:65305758-65305759	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571242022	chr11:65305764-65305765	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369741245	chr11:65305843-65305844	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373512455	chr11:65305846-65305847	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533603138	chr11:65305862-65305863	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1784221	chr11:65305868-65305869	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573462705	chr11:65305933-65305934	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370701660	chr11:65305937-65305938	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556081911	chr11:65305940-65305941	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575977540	chr11:65305948-65305949	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200041750	chr11:65305964-65305965	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200704028	chr11:65305968-65305969	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564277938	chr11:65305980-65305981	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376500168	chr11:65305992-65305993	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370774721	chr11:65305998-65305999	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373594681	chr11:65306004-65306005	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61893784	chr11:65306033-65306034	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs199643862	chr11:65306073-65306074	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540362534	chr11:65306113-65306114	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs15961	chr11:65306128-65306129	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560260275	chr11:65306129-65306130	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529032105	chr11:65306145-65306146	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541755996	chr11:65306177-65306178	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568726884	chr11:65306184-65306185	Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531476673	chr11:65306227-65306228	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551654679	chr11:65306245-65306246	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs74528698	chr11:65306251-65306252	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs76274633	chr11:65306253-65306254	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs190101748	chr11:65306297-65306298	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs4930294	chr11:65306318-65306319	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Hodgkin''s lymphoma	18641027	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65293600-65305600	Weak transcription	Right Atrium	heart
2	chr11:65293600-65307600	Weak transcription	Small Intestine	intestine
3	chr11:65294000-65305800	Strong transcription	Fetal Brain Female	brain
4	chr11:65294000-65305800	Strong transcription	Fetal Intestine Large	intestine
5	chr11:65294000-65306400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:65294000-65306400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:65294000-65306400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:65294000-65306600	Weak transcription	Fetal Heart	heart
9	chr11:65294000-65306800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:65294000-65307000	Strong transcription	Lung	lung
11	chr11:65294000-65307200	Strong transcription	Brain Cingulate Gyrus	brain
12	chr11:65294200-65306200	Strong transcription	Brain Hippocampus Middle	brain
13	chr11:65294200-65306200	Weak transcription	Fetal Brain Male	brain
14	chr11:65294200-65306200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:65294200-65306400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:65294200-65306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:65294200-65307200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:65294400-65306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:65294400-65306200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:65294400-65306400	Strong transcription	Brain Germinal Matrix	brain
21	chr11:65294400-65306400	Strong transcription	Brain Substantia Nigra	brain
22	chr11:65294400-65306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:65294400-65307000	Strong transcription	Fetal Stomach	stomach
24	chr11:65294400-65307200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65294400-65307400	Strong transcription	NHLF	lung
26	chr11:65294600-65306000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:65294600-65306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:65294600-65306400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:65294600-65307000	Strong transcription	Adipose Nuclei	Adipose
30	chr11:65294600-65307200	Strong transcription	Placenta	Placenta
31	chr11:65294800-65306400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:65294800-65306600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:65294800-65307400	Strong transcription	Osteobl	bone
34	chr11:65295000-65306400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:65295200-65306200	Strong transcription	Right Ventricle	heart
36	chr11:65295200-65306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:65296000-65306600	Strong transcription	Brain Anterior Caudate	brain
38	chr11:65296400-65306600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:65297000-65306400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:65297200-65306800	Strong transcription	Pancreas	Pancrea
41	chr11:65297400-65305600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:65297400-65307200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:65297400-65311200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:65297600-65307200	Strong transcription	Thymus	Thymus
45	chr11:65297800-65306400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:65297800-65306400	Strong transcription	Fetal Thymus	thymus
47	chr11:65298000-65306600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:65298000-65306800	Strong transcription	Primary T cells from cord blood	blood
49	chr11:65298000-65306800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:65298000-65307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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