Variant report

Variant	esv1813137
Chromosome Location	chr11:66098322-66106725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:849)
CpG islands
(count:1466)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:66104199-66104381	K562	blood:	n/a	n/a
2	ARID3A	chr11:66103997-66104381	HepG2	liver:	n/a	n/a
3	ATF2	chr11:66104051-66104488	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:66103774-66104525	GM12878	blood:	n/a	n/a
5	ATF2	chr11:66104076-66104486	GM12878	blood:	n/a	n/a
6	ATF3	chr11:66104115-66104492	K562	blood:	n/a	n/a
7	BACH1	chr11:66103973-66103977	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr11:66104100-66104446	GM12878	blood:	n/a	chr11:66104295-66104306 chr11:66104296-66104306 chr11:66104292-66104302
9	BATF	chr11:66103985-66104564	GM12878	blood:	n/a	chr11:66104295-66104306 chr11:66104296-66104306 chr11:66104292-66104302
10	BCL11A	chr11:66104061-66104376	GM12878	blood:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
11	BCL11A	chr11:66103910-66104426	GM12878	blood:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
12	BCL3	chr11:66104008-66104334	GM12878	blood:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
13	BCL3	chr11:66103727-66104606	A549	lung:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
14	BCL3	chr11:66103695-66104531	A549	lung:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
15	BCLAF1	chr11:66103909-66104608	GM12878	blood:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
16	BCLAF1	chr11:66103855-66104498	GM12878	blood:	n/a	chr11:66104295-66104304 chr11:66104294-66104303
17	BHLHE40	chr11:66103774-66104489	HepG2	liver:	n/a	n/a
18	BHLHE40	chr11:66103919-66104377	K562	blood:	n/a	n/a
19	BHLHE40	chr11:66103388-66103534	GM12878	blood:	n/a	n/a
20	BHLHE40	chr11:66103921-66104598	GM12878	blood:	n/a	n/a
21	BRCA1	chr11:66103891-66104435	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr11:66104164-66104500	GM12878	blood:	n/a	n/a
23	BRCA1	chr11:66104357-66104424	HepG2	liver:	n/a	n/a
24	CBX3	chr11:66104001-66104446	K562	blood:	n/a	n/a
25	CEBPB	chr11:66103998-66104470	GM12878	blood:	n/a	n/a
26	CEBPB	chr11:66103822-66104424	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr11:66103827-66104574	IMR90	lung:	n/a	n/a
28	CEBPB	chr11:66103198-66103590	IMR90	lung:	n/a	n/a
29	CEBPB	chr11:66103252-66103496	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:66103801-66104410	A549	lung:	n/a	n/a
31	CEBPB	chr11:66104075-66104332	HepG2	liver:	n/a	n/a
32	CEBPD	chr11:66103731-66104317	HepG2	liver:	n/a	n/a
33	CEBPZ	chr11:66104258-66104332	HepG2	liver:	n/a	n/a
34	CHD1	chr11:66104044-66104602	GM12878	blood:	n/a	n/a
35	CHD1	chr11:66102182-66106109	IMR90	lung:	n/a	n/a
36	CHD1	chr11:66105342-66105351	GM12878	blood:	n/a	n/a
37	CHD2	chr11:66103892-66104515	GM12878	blood:	n/a	n/a
38	CHD2	chr11:66103217-66104430	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr11:66103672-66104412	HepG2	liver:	n/a	n/a
40	CHD2	chr11:66104309-66104526	K562	blood:	n/a	n/a
41	CREB1	chr11:66103669-66104550	HepG2	liver:	n/a	n/a
42	CREB1	chr11:66103644-66104360	A549	lung:	n/a	n/a
43	CTCF	chr11:66104180-66104330	A549	lung:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291
44	CTCF	chr11:66105240-66105390	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr11:66104220-66104370	BE2_C	brain:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291
46	CTCF	chr11:66104180-66104330	Caco-2	colon:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291
47	CTCF	chr11:66104185-66104401	Spleen_OC	spleen:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291
48	CTCF	chr11:66103140-66103290	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr11:66104160-66104310	NHEK	skin:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291
50	CTCF	chr11:66104220-66104370	AoAF	blood vessel:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104273-66104291

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66102686-66102736	SAEC	small airway:	n/a
2	chr11:66104018-66104068	ovcar-3	ovarian:	n/a
3	chr11:66102686-66102736	SAEC	small airway:	n/a
4	chr11:66104018-66104068	ovcar-3	ovarian:	n/a
5	chr11:66101109-66101159	HEEpiC	esophagus:	n/a
6	chr11:66102062-66102112	HRPEpiC	eye:	n/a
7	chr11:66104115-66104165	AG04449	skin:	fetal
8	chr11:66104018-66104068	RPTEC	kidney:	n/a
9	chr11:66103925-66103975	RPTEC	kidney:	n/a
10	chr11:66103481-66103531	RPTEC	kidney:	n/a
11	chr11:66102352-66102402	U87	brain:	n/a
12	chr11:66103823-66103873	HRE	kidney:	n/a
13	chr11:66103386-66103436	A549	lung:	n/a
14	chr11:66103925-66103975	HEK293	kidney:	embryo
15	chr11:66103889-66103939	MCF10A-Er-Src	breast:	n/a
16	chr11:66105148-66105198	PrEC	prostate:	n/a
17	chr11:66104468-66104518	AoSMC	blood vessel:	n/a
18	chr11:66104174-66104224	HCT-116	colon:	n/a
19	chr11:66103540-66103590	MCF-7	breast:	n/a
20	chr11:66104993-66105043	HepG2	liver:	n/a
21	chr11:66104468-66104518	Jurkat	blood:	n/a
22	chr11:66104468-66104518	MCF-7	breast:	n/a
23	chr11:66099716-66099766	HEK293	kidney:	embryo
24	chr11:66103604-66103654	GM19239	blood:	n/a
25	chr11:66104018-66104068	HepG2	liver:	n/a
26	chr11:66102146-66102196	HUVEC	blood vessel:	n/a
27	chr11:66104481-66104531	GM12878	blood:	n/a
28	chr11:66105148-66105198	HUVEC	blood vessel:	n/a
29	chr11:66103540-66103590	HEEpiC	esophagus:	n/a
30	chr11:66103925-66103975	AG09319	gingival:	n/a
31	chr11:66102062-66102112	GM12878	blood:	n/a
32	chr11:66103925-66103975	GM12878	blood:	n/a
33	chr11:66104174-66104224	Hepatocyte	liver:	n/a
34	chr11:66102055-66102105	K562	blood:	n/a
35	chr11:66101109-66101159	PrEC	prostate:	n/a
36	chr11:66103540-66103590	Hepatocyte	liver:	n/a
37	chr11:66099716-66099766	SKMC	muscle:	n/a
38	chr11:66103604-66103654	AG10803	skin:	n/a
39	chr11:66102146-66102196	PFSK-1	brain:	n/a
40	chr11:66104468-66104518	HRCEpiC	kidney:	n/a
41	chr11:66103925-66103975	GM12892	blood:	n/a
42	chr11:66103604-66103654	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:66102055-66102105	HEK293	kidney:	embryo
44	chr11:66103823-66103873	NH-A	brain:	n/a
45	chr11:66099716-66099766	ProgFib	skin:	n/a
46	chr11:66104018-66104068	NHBE	bronchial:	n/a
47	chr11:66104115-66104165	HL-60	blood:	n/a
48	chr11:66103540-66103590	HCPEpiC	choroid plexus:	n/a
49	chr11:66104481-66104531	HCPEpiC	choroid plexus:	n/a
50	chr11:66104018-66104068	T-47D	breast:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
2	chr11:66096831..66099072-chr11:66133272..66136044,2	MCF-7	breast:
3	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
4	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
5	chr11:66102037..66105089-chr11:66137738..66140850,8	MCF-7	breast:
6	chr11:66055597..66057691-chr11:66102656..66105498,2	K562	blood:
7	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
8	chr11:66103394..66104172-chr11:118888520..118889037,2	NB4	blood:
9	chr11:66103166..66103970-chr19:12902218..12902759,2	Hela-S3	cervix:
10	chr11:66102771..66103613-chr21:38639520..38640099,2	Hela-S3	cervix:
11	chr11:66079593..66081996-chr11:66098555..66100788,2	K562	blood:
12	chr11:66078330..66081708-chr11:66094461..66098902,4	MCF-7	breast:
13	chr11:66052249..66054204-chr11:66103456..66106375,2	K562	blood:
14	chr11:66078962..66079655-chr11:66098111..66098921,2	K562	blood:
15	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
16	chr11:66105229..66107921-chr11:66137845..66140826,3	MCF-7	breast:
17	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
18	chr11:66099391..66101951-chr11:66136865..66139271,2	K562	blood:
19	chr11:66048984..66050928-chr11:66106089..66108288,2	MCF-7	breast:
20	chr11:66096036..66100735-chr11:66109250..66113337,6	K562	blood:
21	chr11:66105926..66107634-chr11:66113963..66115693,2	K562	blood:
22	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
23	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:
24	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
25	chr11:66055819..66057691-chr11:66103911..66105498,2	K562	blood:
26	chr11:66083086..66084913-chr11:66102353..66104167,3	MCF-7	breast:
27	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
28	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
29	chr11:65623324..65625591-chr11:66098179..66100735,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254756	TF binding region
RIN1	TF binding region
ENSG00000254756	CpG island
RIN1	CpG island
ENSG00000172732	chromatin interactions
ENSG00000157538	chromatin interactions
ENSG00000174871	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000272948	chromatin interactions
ENSG00000174684	chromatin interactions
ENSG00000118181	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000174807	chromatin interactions
ENSG00000255468	chromatin interactions
ENSG00000245156	chromatin interactions
ENSG00000254458	chromatin interactions

Extended variants
information (count: 504 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11823140	chr11:66098322-66098323	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189214893	chr11:66098341-66098342	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs375934399	chr11:66098343-66098344	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs369861974	chr11:66098344-66098345	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs151199301	chr11:66098361-66098362	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs558390179	chr11:66098368-66098369	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs537521330	chr11:66098391-66098392	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs140355915	chr11:66098404-66098405	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs540995099	chr11:66098431-66098432	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs565580305	chr11:66098452-66098453	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs528158040	chr11:66098501-66098502	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552301712	chr11:66098517-66098518	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs1629387	chr11:66098526-66098527	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs113756150	chr11:66098530-66098531	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs574584430	chr11:66098548-66098549	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs377355696	chr11:66098561-66098562	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs543539670	chr11:66098576-66098577	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs563374159	chr11:66098588-66098589	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs532101917	chr11:66098593-66098594	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs552215479	chr11:66098607-66098608	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs565408738	chr11:66098619-66098620	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs115284368	chr11:66098632-66098633	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs547813018	chr11:66098670-66098671	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs76023546	chr11:66098677-66098678	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs536496245	chr11:66098678-66098679	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs181966463	chr11:66098708-66098709	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs549817229	chr11:66098737-66098738	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs569824359	chr11:66098782-66098783	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs369202457	chr11:66098824-66098825	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs554173587	chr11:66098866-66098867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs185801605	chr11:66098872-66098873	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs150379440	chr11:66098904-66098905	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs572382503	chr11:66098976-66098977	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs574360702	chr11:66098983-66098984	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs117475530	chr11:66098985-66098986	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs536584643	chr11:66099012-66099013	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs553627048	chr11:66099023-66099024	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs554612929	chr11:66099041-66099042	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs35947684	chr11:66099079-66099080	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12281117	chr11:66099087-66099088	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs57004348	chr11:66099135-66099136	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs563335539	chr11:66099147-66099148	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs577032428	chr11:66099173-66099174	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs545946005	chr11:66099206-66099207	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs11823756	chr11:66099222-66099223	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528116914	chr11:66099314-66099315	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs71457711	chr11:66099323-66099324	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7948019	chr11:66099335-66099336	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs190651420	chr11:66099338-66099339	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs549978424	chr11:66099366-66099367	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
4	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66095800-66100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66096400-66098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:66096400-66099000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:66096400-66099000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:66096400-66099000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66096400-66099000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:66096400-66099000	Weak transcription	HMEC	breast
12	chr11:66096400-66099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:66096400-66099200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:66096400-66099200	Weak transcription	Esophagus	oesophagus
15	chr11:66096400-66099200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:66096400-66099200	Weak transcription	Gastric	stomach
17	chr11:66096400-66099200	Weak transcription	Lung	lung
18	chr11:66096400-66099400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:66096400-66099400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:66096400-66099600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:66096400-66099600	Weak transcription	Ovary	ovary
22	chr11:66096400-66099600	Weak transcription	Right Ventricle	heart
23	chr11:66096400-66099600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:66096400-66099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:66096400-66099800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:66096400-66099800	Weak transcription	Colonic Mucosa	Colon
27	chr11:66096400-66099800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66096400-66100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:66096400-66100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:66096400-66100200	Weak transcription	Pancreas	Pancrea
31	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:66096400-66102400	Weak transcription	HSMM	muscle
35	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
37	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
42	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
44	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:66096400-66104400	Weak transcription	Dnd41	blood
47	chr11:66096600-66098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:66096600-66098800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:66096600-66098800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:66096600-66098800	Weak transcription	Primary monocytes fromperipheralblood	blood

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