Variant report

Variant	nsv327
Chromosome Location	chr11:57532641-57550746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:701)
CpG islands
(count:61)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:57545507-57546783	HepG2	liver:	n/a	chr11:57546528-57546544 chr11:57546529-57546545
2	ATF1	chr11:57532417-57532796	K562	blood:	n/a	n/a
3	ATF1	chr11:57546000-57546439	K562	blood:	n/a	n/a
4	ATF2	chr11:57548819-57549461	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:57548737-57549488	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:57546027-57546381	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr11:57545462-57546500	A549	lung:	n/a	chr11:57546231-57546240 chr11:57546234-57546243
8	BCL3	chr11:57545743-57546822	A549	lung:	n/a	chr11:57546231-57546240 chr11:57546234-57546243
9	BHLHE40	chr11:57545463-57546425	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:57546030-57546275	K562	blood:	n/a	n/a
11	BRCA1	chr11:57546083-57546590	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr11:57546097-57546366	HepG2	liver:	n/a	n/a
13	BRCA1	chr11:57546834-57547108	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr11:57548750-57549621	HCT-116	colon:	n/a	n/a
15	CCNT2	chr11:57532445-57532806	K562	blood:	n/a	n/a
16	CEBPB	chr11:57535008-57535126	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr11:57535013-57535191	K562	blood:	n/a	n/a
18	CEBPB	chr11:57546173-57546407	HepG2	liver:	n/a	n/a
19	CEBPB	chr11:57548400-57548607	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr11:57548984-57549497	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr11:57545522-57545792	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:57548381-57548565	A549	lung:	n/a	n/a
23	CEBPB	chr11:57546904-57547143	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:57532387-57532733	K562	blood:	n/a	n/a
25	CEBPD	chr11:57532447-57532920	K562	blood:	n/a	n/a
26	CEBPD	chr11:57532337-57532918	K562	blood:	n/a	n/a
27	CEBPD	chr11:57545913-57546406	HepG2	liver:	n/a	n/a
28	CHD1	chr11:57548750-57549611	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr11:57545377-57547184	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr11:57546133-57546366	HepG2	liver:	n/a	n/a
31	CHD2	chr11:57545970-57546363	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr11:57548869-57549477	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr11:57545958-57546367	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr11:57546014-57546422	A549	lung:	n/a	n/a
35	CREB1	chr11:57549024-57549511	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr11:57549040-57549507	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr11:57545884-57546381	A549	lung:	n/a	n/a
38	CREB1	chr11:57548891-57549549	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr11:57548967-57549509	ECC-1	luminal epithelium:	n/a	n/a
40	CTBP2	chr11:57549053-57549427	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:57546980-57547130	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr11:57546880-57547030	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:57547000-57547150	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr11:57546980-57547130	HMF	breast:	n/a	n/a
45	CTCF	chr11:57546820-57547050	HPF	lung:	n/a	n/a
46	CTCF	chr11:57546940-57547090	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr11:57546940-57547090	HepG2	liver:	n/a	n/a
48	CTCF	chr11:57546900-57547050	HRE	kidney:	n/a	n/a
49	CTCF	chr11:57546920-57547070	HPF	lung:	n/a	n/a
50	CTCF	chr11:57546920-57547070	AoAF	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57548688-57548738	Jurkat	blood:	n/a
2	chr11:57548688-57548738	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:57548688-57548738	AG09319	gingival:	n/a
4	chr11:57548688-57548738	HAEpiC	amniotic membrane:	n/a
5	chr11:57548688-57548738	A549	lung:	n/a
6	chr11:57548688-57548738	T-47D	breast:	n/a
7	chr11:57548688-57548738	SKMC	muscle:	n/a
8	chr11:57548688-57548738	HCPEpiC	choroid plexus:	n/a
9	chr11:57548688-57548738	GM06990	blood:	n/a
10	chr11:57548688-57548738	SK-N-SH	brain:	n/a
11	chr11:57548688-57548738	NHBE	bronchial:	n/a
12	chr11:57548688-57548738	Caco-2	colon:	n/a
13	chr11:57548688-57548738	AoSMC	blood vessel:	n/a
14	chr11:57548688-57548738	HIPEpiC	eye:	n/a
15	chr11:57548688-57548738	BJ	skin:	n/a
16	chr11:57548688-57548738	GM12892	blood:	n/a
17	chr11:57548688-57548738	GM19239	blood:	n/a
18	chr11:57548688-57548738	HL-60	blood:	n/a
19	chr11:57548688-57548738	HCT-116	colon:	n/a
20	chr11:57548688-57548738	AG04450	lung:	fetal
21	chr11:57548688-57548738	MCF10A-Er-Src	breast:	n/a
22	chr11:57548688-57548738	SK-N-SH_RA	brain:	n/a
23	chr11:57548688-57548738	HMEC	breast:	n/a
24	chr11:57548688-57548738	HRPEpiC	eye:	n/a
25	chr11:57548688-57548738	GM12891	blood:	n/a
26	chr11:57548688-57548738	ovcar-3	ovarian:	n/a
27	chr11:57548688-57548738	HEEpiC	esophagus:	n/a
28	chr11:57548688-57548738	AG09309	skin:	n/a
29	chr11:57548688-57548738	HRE	kidney:	n/a
30	chr11:57548688-57548738	HCF	heart:	n/a
31	chr11:57548688-57548738	ECC-1	luminal epithelium:	n/a
32	chr11:57548688-57548738	ProgFib	skin:	n/a
33	chr11:57548688-57548738	NH-A	brain:	n/a
34	chr11:57548688-57548738	SAEC	small airway:	n/a
35	chr11:57548688-57548738	NB4	blood:	n/a
36	chr11:57548688-57548738	PrEC	prostate:	n/a
37	chr11:57548688-57548738	AG10803	skin:	n/a
38	chr11:57548688-57548738	RPTEC	kidney:	n/a
39	chr11:57548688-57548738	U87	brain:	n/a
40	chr11:57548688-57548738	BE2_C	brain:	n/a
41	chr11:57548688-57548738	HEK293	kidney:	embryo
42	chr11:57548688-57548738	HNPCEpiC	eye:	n/a
43	chr11:57548688-57548738	GM12878	blood:	n/a
44	chr11:57548688-57548738	HepG2	liver:	n/a
45	chr11:57548688-57548738	PANC-1	pancreas:	n/a
46	chr11:57548688-57548738	LNCaP	prostate:	n/a
47	chr11:57548688-57548738	SK-N-MC	brain:	n/a
48	chr11:57548688-57548738	HCM	heart:	n/a
49	chr11:57548688-57548738	IMR90	lung:	fetal
50	chr11:57548688-57548738	K562	blood:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57528182..57530644-chr11:57538685..57540452,2	MCF-7	breast:
2	chr11:57545891..57547434-chr11:57557245..57559839,2	K562	blood:
3	chr11:57545694..57547445-chr11:57547779..57550427,3	MCF-7	breast:
4	chr11:57440686..57443520-chr11:57549214..57550745,2	K562	blood:
5	chr11:57540348..57543144-chr11:57545793..57547381,2	K562	blood:
6	chr11:57545406..57547871-chr11:57550321..57552770,3	MCF-7	breast:
7	chr11:57531061..57532831-chr11:57545293..57547269,2	K562	blood:
8	chr11:57543734..57545527-chr11:57568309..57570435,2	K562	blood:
9	chr11:57547662..57550342-chr11:57558966..57560967,3	K562	blood:
10	chr11:57508846..57511581-chr11:57547881..57549731,2	K562	blood:
11	chr11:57532498..57533110-chr11:57545878..57546781,2	MCF-7	breast:
12	chr11:57477927..57479766-chr11:57539022..57541823,2	MCF-7	breast:
13	chr11:57544562..57546091-chr11:57553021..57555562,2	K562	blood:
14	chr11:57510237..57513047-chr11:57544366..57548086,3	MCF-7	breast:
15	chr11:57542706..57545310-chr11:57561763..57564745,3	MCF-7	breast:
16	chr11:57507427..57512619-chr11:57528805..57534217,7	K562	blood:
17	chr11:57545587..57547830-chr11:57553519..57555695,2	MCF-7	breast:
18	chr11:57527377..57534826-chr11:57541861..57548775,13	MCF-7	breast:
19	chr11:57545406..57547871-chr11:57550321..57552770,3	MCF-7	breast:
20	chr11:57529498..57532508-chr11:57541660..57544888,3	K562	blood:
21	chr11:57528048..57531097-chr11:57548778..57551270,4	MCF-7	breast:
22	chr11:57524631..57526806-chr11:57535768..57537369,2	K562	blood:
23	chr11:57528231..57532221-chr11:57532591..57536527,5	MCF-7	breast:
24	chr11:57509911..57512073-chr11:57545879..57548404,2	MCF-7	breast:
25	chr11:57517889..57520334-chr11:57544692..57547242,2	MCF-7	breast:
26	chr11:57533309..57536452-chr11:57541142..57544188,3	K562	blood:
27	chr11:57528593..57530299-chr11:57547251..57549415,2	K562	blood:
28	chr11:57540282..57543092-chr11:57543604..57545694,2	K562	blood:
29	chr11:57540348..57543144-chr11:57545793..57547381,2	K562	blood:
30	chr11:57540282..57543092-chr11:57543604..57545694,2	K562	blood:
31	chr11:57527762..57530093-chr11:57547915..57549720,2	K562	blood:
32	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
33	chr11:57533309..57536452-chr11:57541142..57544188,3	K562	blood:
34	chr11:57541504..57544488-chr11:62607869..62609390,2	MCF-7	breast:
35	chr11:57544135..57547056-chr11:57548257..57551353,3	K562	blood:
36	chr11:57529135..57533999-chr11:57544009..57550841,10	MCF-7	breast:
37	chr11:57517755..57521184-chr11:57545638..57549281,5	MCF-7	breast:
38	chr11:57508432..57511977-chr11:57530270..57533342,3	MCF-7	breast:
39	chr11:57529135..57533999-chr11:57544009..57550841,10	MCF-7	breast:
40	chr11:57506998..57509291-chr11:57540443..57545321,4	K562	blood:
41	chr11:57527376..57533264-chr11:57564914..57570096,15	MCF-7	breast:
42	chr11:57532498..57533110-chr11:57545878..57546781,2	MCF-7	breast:
43	chr11:57422766..57425060-chr11:57546530..57548326,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTNND1	TF binding region
CTNND1	CpG island
ENSG00000156603	chromatin interactions
ENSG00000254732	chromatin interactions
ENSG00000233436	chromatin interactions
ENSG00000172409	chromatin interactions
ENSG00000198561	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000211450	chromatin interactions

Extended variants
information (count: 566 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552824782	chr11:57532684-57532685	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs375961950	chr11:57532697-57532698	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs115003738	chr11:57532726-57532727	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546148055	chr11:57532743-57532744	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567831702	chr11:57532746-57532747	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs181138802	chr11:57532799-57532800	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs4939157	chr11:57532826-57532827	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs550532960	chr11:57532844-57532845	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569019483	chr11:57532878-57532879	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs66677906	chr11:57532932-57532933	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs5792061	chr11:57532933-57532934	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs398016146	chr11:57532955-57532956	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs34668837	chr11:57532993-57532994	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539394563	chr11:57533000-57533001	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114051900	chr11:57533089-57533090	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs573132534	chr11:57533130-57533131	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535029298	chr11:57533138-57533139	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs80286487	chr11:57533140-57533141	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542026970	chr11:57533180-57533181	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575014049	chr11:57533192-57533193	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs542327734	chr11:57533220-57533221	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563768107	chr11:57533223-57533224	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575790345	chr11:57533280-57533281	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546035566	chr11:57533315-57533316	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564812369	chr11:57533342-57533343	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528725731	chr11:57533370-57533371	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548697857	chr11:57533378-57533379	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs546211355	chr11:57533381-57533382	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs79148861	chr11:57533423-57533424	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs143223860	chr11:57533477-57533478	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs147508633	chr11:57533570-57533571	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140241980	chr11:57533616-57533617	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs551249535	chr11:57533619-57533620	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566791560	chr11:57533620-57533621	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574819930	chr11:57533644-57533645	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs72929820	chr11:57533764-57533765	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553438348	chr11:57533812-57533813	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541481830	chr11:57534009-57534010	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs370581286	chr11:57534011-57534012	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs117384865	chr11:57534013-57534014	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs149634890	chr11:57534053-57534054	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185326911	chr11:57534077-57534078	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs190866591	chr11:57534174-57534175	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs12146692	chr11:57534190-57534191	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372361095	chr11:57534201-57534202	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs573231200	chr11:57534223-57534224	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144461183	chr11:57534249-57534250	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540511649	chr11:57534258-57534259	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561390145	chr11:57534296-57534297	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182614397	chr11:57534363-57534364	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1447 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57528600-57533400	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:57528800-57533000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:57528800-57533000	Active TSS	Left Ventricle	heart
4	chr11:57528800-57533600	Active TSS	Aorta	Aorta
5	chr11:57528800-57533600	Active TSS	Esophagus	oesophagus
6	chr11:57528800-57533600	Active TSS	Right Ventricle	heart
7	chr11:57528800-57534200	Active TSS	Right Atrium	heart
8	chr11:57529000-57532800	Active TSS	Colon Smooth Muscle	Colon
9	chr11:57529000-57533000	Active TSS	Colonic Mucosa	Colon
10	chr11:57529000-57533400	Active TSS	Stomach Mucosa	stomach
11	chr11:57529200-57533600	Active TSS	Lung	lung
12	chr11:57529400-57532800	Active TSS	Small Intestine	intestine
13	chr11:57529800-57532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:57530400-57532800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:57530400-57545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:57530800-57533000	Flanking Active TSS	Liver	Liver
17	chr11:57531000-57532800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr11:57531000-57533600	Enhancers	Primary T cells from cord blood	blood
19	chr11:57531200-57532800	Flanking Active TSS	Hela-S3	cervix
20	chr11:57531200-57533000	Flanking Active TSS	HUVEC	blood vessel
21	chr11:57531200-57533000	Flanking Active TSS	K562	blood
22	chr11:57531200-57533200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:57531400-57532800	Enhancers	Dnd41	blood
24	chr11:57531400-57533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:57531400-57533000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:57531400-57533400	Enhancers	Fetal Thymus	thymus
27	chr11:57531400-57543200	Weak transcription	Primary B cells from cord blood	blood
28	chr11:57531600-57532800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:57531600-57533000	Flanking Active TSS	Osteobl	bone
30	chr11:57531600-57533200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:57531600-57533400	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:57531800-57532800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:57531800-57532800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr11:57531800-57532800	Flanking Active TSS	A549	lung
35	chr11:57531800-57533000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:57531800-57533200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:57531800-57533200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57531800-57533200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:57531800-57533200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:57531800-57533400	Flanking Active TSS	NHEK	skin
41	chr11:57531800-57533600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:57531800-57534600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:57531800-57538200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:57531800-57539800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:57531800-57543200	Weak transcription	Thymus	Thymus
46	chr11:57532000-57532800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:57532000-57532800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:57532000-57532800	Flanking Active TSS	NH-A	brain
49	chr11:57532000-57533000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:57532000-57533000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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