Variant report

Variant	esv3426165
Chromosome Location	chr11:63683826-63685724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:694)
CpG islands
(count:369)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:694 , 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	ARID3A	chr11:63684556-63684705	HepG2	liver:	n/a	n/a
2	ATF2	chr11:63683768-63684386	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:63685170-63685550	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:63685062-63685545	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:63685135-63685939	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:63683925-63684279	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:63684750-63684925	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr11:63685114-63685573	A549	lung:	n/a	chr11:63685539-63685552 chr11:63685535-63685548
9	BCL3	chr11:63683714-63684103	A549	lung:	n/a	n/a
10	BHLHE40	chr11:63685121-63685914	K562	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
11	BHLHE40	chr11:63684524-63684788	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:63685215-63685728	HepG2	liver:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
13	BHLHE40	chr11:63683951-63684125	K562	blood:	n/a	n/a
14	BHLHE40	chr11:63684506-63684750	HepG2	liver:	n/a	chr11:63684523-63684539 chr11:63684522-63684538
15	BHLHE40	chr11:63684516-63684725	K562	blood:	n/a	chr11:63684523-63684539 chr11:63684522-63684538
16	BHLHE40	chr11:63685341-63685669	A549	lung:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
17	BHLHE40	chr11:63685246-63685824	GM12878	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
18	BRCA1	chr11:63685703-63685926	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr11:63684554-63684719	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:63683887-63684191	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr11:63684460-63684742	K562	blood:	n/a	n/a
22	CBX3	chr11:63685301-63686002	K562	blood:	n/a	n/a
23	CCNT2	chr11:63683828-63684752	K562	blood:	n/a	chr11:63684679-63684688 chr11:63684223-63684232
24	CCNT2	chr11:63685334-63686012	K562	blood:	n/a	chr11:63685353-63685362 chr11:63685422-63685431
25	CEBPB	chr11:63685689-63685746	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:63683886-63684083	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPD	chr11:63684519-63684839	HepG2	liver:	n/a	n/a
28	CHD1	chr11:63684124-63684245	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr11:63683944-63684205	K562	blood:	n/a	n/a
30	CHD2	chr11:63685353-63685956	K562	blood:	n/a	chr11:63685353-63685363
31	CHD2	chr11:63684474-63684871	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr11:63683995-63684179	GM12878	blood:	n/a	n/a
33	CHD2	chr11:63684478-63684850	GM12878	blood:	n/a	n/a
34	CHD2	chr11:63683912-63684176	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr11:63684457-63685997	Hela-S3	cervix:	n/a	chr11:63685353-63685363 chr11:63685039-63685049
36	CHD2	chr11:63685370-63685371	HepG2	liver:	n/a	n/a
37	CHD2	chr11:63684479-63684863	K562	blood:	n/a	n/a
38	CHD2	chr11:63685077-63686358	H1-hESC	embryonic stem cell:	n/a	chr11:63685353-63685363
39	CHD2	chr11:63684482-63684862	HepG2	liver:	n/a	n/a
40	CHD2	chr11:63685233-63685529	GM12878	blood:	n/a	chr11:63685353-63685363
41	CREB1	chr11:63684809-63685135	A549	lung:	n/a	n/a
42	CREB1	chr11:63684498-63684733	A549	lung:	n/a	n/a
43	CREB1	chr11:63685167-63685750	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr11:63683869-63684390	A549	lung:	n/a	n/a
45	CTBP2	chr11:63684917-63689153	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:63683907-63684117	GM10248	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
47	CTCF	chr11:63683940-63684090	WERI-Rb-1	eye:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
48	CTCF	chr11:63684060-63684210	WI-38	lung:	n/a	n/a
49	CTCF	chr11:63683980-63684130	HBMEC	blood vessel:	n/a	chr11:63684015-63684033
50	CTCF	chr11:63683920-63684070	AoAF	blood vessel:	n/a	chr11:63683943-63683956 chr11:63684015-63684033

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63684164-63684214	ovcar-3	ovarian:	n/a
2	chr11:63684106-63684156	T-47D	breast:	n/a
3	chr11:63684601-63684651	SKMC	muscle:	n/a
4	chr11:63684164-63684214	ovcar-3	ovarian:	n/a
5	chr11:63684106-63684156	T-47D	breast:	n/a
6	chr11:63684601-63684651	SKMC	muscle:	n/a
7	chr11:63684331-63684381	NHDF-neo	bronchial:	n/a
8	chr11:63684331-63684381	HNPCEpiC	eye:	n/a
9	chr11:63684164-63684214	HAEpiC	amniotic membrane:	n/a
10	chr11:63684164-63684214	H1-hESC	embryonic stem cell:	embryo
11	chr11:63684106-63684156	GM06990	blood:	n/a
12	chr11:63684911-63684961	GM19239	blood:	n/a
13	chr11:63684597-63684647	SAEC	small airway:	n/a
14	chr11:63684601-63684651	AoSMC	blood vessel:	n/a
15	chr11:63684597-63684647	HRCEpiC	kidney:	n/a
16	chr11:63684106-63684156	MCF10A-Er-Src	breast:	n/a
17	chr11:63684911-63684961	Jurkat	blood:	n/a
18	chr11:63684597-63684647	ECC-1	luminal epithelium:	n/a
19	chr11:63684911-63684961	H1-hESC	embryonic stem cell:	embryo
20	chr11:63684164-63684214	AG04450	lung:	fetal
21	chr11:63684911-63684961	HEEpiC	esophagus:	n/a
22	chr11:63684331-63684381	HCF	heart:	n/a
23	chr11:63684106-63684156	HUVEC	blood vessel:	n/a
24	chr11:63684601-63684651	NT2-D1	testis:	n/a
25	chr11:63684601-63684651	HUVEC	blood vessel:	n/a
26	chr11:63684911-63684961	A549	lung:	n/a
27	chr11:63684601-63684651	HAEpiC	amniotic membrane:	n/a
28	chr11:63684106-63684156	IMR90	lung:	fetal
29	chr11:63684601-63684651	HEK293	kidney:	embryo
30	chr11:63684597-63684647	K562	blood:	n/a
31	chr11:63684911-63684961	SK-N-SH	brain:	n/a
32	chr11:63684164-63684214	NHDF-neo	bronchial:	n/a
33	chr11:63684911-63684961	K562	blood:	n/a
34	chr11:63684597-63684647	HAEpiC	amniotic membrane:	n/a
35	chr11:63684331-63684381	HUVEC	blood vessel:	n/a
36	chr11:63684331-63684381	AoSMC	blood vessel:	n/a
37	chr11:63684331-63684381	AG04450	lung:	fetal
38	chr11:63684331-63684381	AG04449	skin:	fetal
39	chr11:63684164-63684214	GM12891	blood:	n/a
40	chr11:63684911-63684961	HUVEC	blood vessel:	n/a
41	chr11:63684164-63684214	Hepatocyte	liver:	n/a
42	chr11:63684911-63684961	HAEpiC	amniotic membrane:	n/a
43	chr11:63684106-63684156	HMEC	breast:	n/a
44	chr11:63684106-63684156	A549	lung:	n/a
45	chr11:63684601-63684651	IMR90	lung:	fetal
46	chr11:63684331-63684381	HL-60	blood:	n/a
47	chr11:63684331-63684381	GM06990	blood:	n/a
48	chr11:63684911-63684961	GM12878	blood:	n/a
49	chr11:63684106-63684156	GM12892	blood:	n/a
50	chr11:63684164-63684214	SK-N-SH_RA	brain:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63685675..63686195-chr2:136874998..136875975,2	Hela-S3	cervix:
2	chr1:43312323..43313084-chr11:63685388..63685981,2	Hela-S3	cervix:
3	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
4	chr11:63683405..63684071-chr11:63712749..63713693,2	MCF-7	breast:
5	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
6	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
7	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
8	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
9	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
10	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
11	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
12	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:
13	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
14	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
15	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
16	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
17	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
18	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
19	chr11:63605364..63607931-chr11:63685287..63688151,2	MCF-7	breast:
20	chr11:63682437..63684177-chr8:101963345..101965664,2	MCF-7	breast:
21	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
22	chr11:63685552..63686203-chr2:74374074..74375012,2	Hela-S3	cervix:
23	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
24	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
25	chr11:63535779..63536323-chr11:63683262..63684232,2	MCF-7	breast:
26	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
27	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
28	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
29	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:
30	chr11:63685160..63687637-chr11:63739324..63744119,5	K562	blood:
31	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
32	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:

No data

Variant related genes	Relation type
RCOR2	TF binding region
RCOR2	CpG island
ENSG00000133315	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000110583	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000121966	chromatin interactions
ENSG00000255651	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000072518	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149356483	chr11:63683843-63683844	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs200098023	chr11:63683847-63683848	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs372768915	chr11:63683889-63683890	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs573627310	chr11:63683914-63683915	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs542345922	chr11:63683916-63683917	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs562559987	chr11:63683941-63683942	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs201647626	chr11:63683954-63683955	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs149337452	chr11:63683958-63683959	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs564755628	chr11:63683962-63683963	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs527568376	chr11:63683987-63683988	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs547700645	chr11:63684013-63684014	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs566751257	chr11:63684116-63684117	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs374905473	chr11:63684231-63684232	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs547892623	chr11:63684260-63684261	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs549118534	chr11:63684261-63684262	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs569288378	chr11:63684293-63684294	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs144843394	chr11:63684298-63684299	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs112110782	chr11:63684391-63684392	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs12796844	chr11:63684398-63684399	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs543905673	chr11:63684439-63684440	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs374008162	chr11:63684440-63684441	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs545222493	chr11:63684460-63684461	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs562141696	chr11:63684535-63684536	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs558366308	chr11:63684569-63684570	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs578231531	chr11:63684611-63684612	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs113428971	chr11:63684660-63684661	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs534492722	chr11:63684706-63684707	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs554489153	chr11:63684730-63684731	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs574258177	chr11:63684743-63684744	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs542559849	chr11:63684780-63684781	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs555906680	chr11:63684795-63684796	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs575695555	chr11:63684896-63684897	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs544741068	chr11:63684905-63684906	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs564717457	chr11:63684923-63684924	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs527533222	chr11:63684985-63684986	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs367611226	chr11:63685030-63685031	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs540960429	chr11:63685115-63685116	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs561196902	chr11:63685151-63685152	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs529949308	chr11:63685305-63685306	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs139745072	chr11:63685316-63685317	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs569307180	chr11:63685333-63685334	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs531816673	chr11:63685393-63685394	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs386754306	chr11:63685490-63685491	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs56019792	chr11:63685505-63685506	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs144434060	chr11:63685524-63685525	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs571859601	chr11:63685526-63685527	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs534359855	chr11:63685546-63685547	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs554073053	chr11:63685594-63685595	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs371731477	chr11:63685606-63685607	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs567918442	chr11:63685648-63685649	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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	21785460	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
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63676600-63684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:63676600-63684000	Weak transcription	Aorta	Aorta
3	chr11:63679200-63684000	Weak transcription	HSMMtube	muscle
4	chr11:63682600-63684000	Enhancers	Gastric	stomach
5	chr11:63682600-63684200	Enhancers	Lung	lung
6	chr11:63682600-63684200	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr11:63682600-63685800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:63682800-63684000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr11:63682800-63684400	Bivalent Enhancer	Spleen	Spleen
11	chr11:63682800-63685000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:63683000-63685000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:63683000-63685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:63683200-63684000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr11:63683200-63684200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:63683200-63684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:63683200-63684200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:63683200-63684200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:63683200-63684200	Flanking Active TSS	Fetal Lung	lung
30	chr11:63683200-63684200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr11:63683200-63684400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:63683200-63684400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:63683200-63684400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:63683200-63684400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr11:63683400-63684000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr11:63683400-63684000	Enhancers	Liver	Liver
40	chr11:63683400-63684000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr11:63683400-63684000	Active TSS	Rectal Smooth Muscle	rectum
42	chr11:63683400-63684200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr11:63683400-63684200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:63683400-63684200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:63683400-63684200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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