Variant report

Variant	esv3501612
Chromosome Location	chr2:100937370-100939668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:672)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:100937869-100938194	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:100938639-100939098	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:100937897-100938024	K562	blood:	n/a	n/a
4	BHLHE40	chr2:100938971-100939090	K562	blood:	n/a	chr2:100939035-100939051
5	CBX3	chr2:100937749-100938093	K562	blood:	n/a	n/a
6	CCNT2	chr2:100937796-100939124	K562	blood:	n/a	n/a
7	CEBPB	chr2:100937413-100937708	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:100938866-100938977	K562	blood:	n/a	n/a
9	CEBPB	chr2:100937398-100937733	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:100937372-100937722	K562	blood:	n/a	n/a
11	CEBPB	chr2:100938836-100938861	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:100937382-100937725	HepG2	liver:	n/a	n/a
13	CHD2	chr2:100938845-100938960	K562	blood:	n/a	n/a
14	CREB1	chr2:100937804-100938081	A549	lung:	n/a	n/a
15	CTBP2	chr2:100938406-100939157	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr2:100937494-100938186	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:100937780-100938010	HRE	kidney:	n/a	n/a
18	CTCF	chr2:100937880-100938030	A549	lung:	n/a	n/a
19	CTCF	chr2:100937660-100937810	AG04450	lung:	n/a	n/a
20	CTCF	chr2:100937820-100937970	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:100938906-100939001	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:100937860-100938010	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr2:100937775-100938062	A549	lung:	n/a	n/a
24	CTCF	chr2:100937860-100938010	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr2:100937712-100938084	K562	blood:	n/a	n/a
26	CTCF	chr2:100937903-100938008	LNCaP	prostate:	n/a	n/a
27	CTCF	chr2:100937860-100938010	HEK293	kidney:	n/a	n/a
28	CTCF	chr2:100937840-100937990	AG04450	lung:	n/a	n/a
29	CTCF	chr2:100938883-100938998	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:100937800-100937950	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr2:100937850-100937970	Fibrobl	skin:	n/a	n/a
32	CTCF	chr2:100937798-100938068	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:100937846-100937942	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:100937819-100938054	IMR90	lung:	n/a	n/a
35	CTCF	chr2:100937860-100938010	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr2:100937960-100938110	AG04450	lung:	n/a	n/a
37	CTCF	chr2:100938890-100938978	A549	lung:	n/a	n/a
38	CTCF	chr2:100937880-100938030	RPTEC	kidney:	n/a	n/a
39	CTCF	chr2:100938593-100938707	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:100937820-100937970	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr2:100937840-100937990	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr2:100937820-100937970	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:100937860-100938010	HAc	cerebellar:	n/a	n/a
44	CTCF	chr2:100937800-100937950	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:100937860-100938010	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr2:100937860-100938010	BE2_C	brain:	n/a	n/a
47	CTCF	chr2:100937840-100937990	SAEC	small airway:	n/a	n/a
48	CTCF	chr2:100938568-100938631	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:100937817-100937996	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr2:100937805-100937992	Pancreas_OC	pancreas:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100937505-100937555	A549	lung:	n/a
2	chr2:100937505-100937555	A549	lung:	n/a
3	chr2:100937584-100937634	HNPCEpiC	eye:	n/a
4	chr2:100939284-100939334	SK-N-MC	brain:	n/a
5	chr2:100937584-100937634	K562	blood:	n/a
6	chr2:100938903-100938953	HCT-116	colon:	n/a
7	chr2:100939284-100939334	CMK	blood:	n/a
8	chr2:100939284-100939334	SK-N-SH_RA	brain:	n/a
9	chr2:100938903-100938953	HIPEpiC	eye:	n/a
10	chr2:100938813-100938863	HAEpiC	amniotic membrane:	n/a
11	chr2:100937584-100937634	ProgFib	skin:	n/a
12	chr2:100937584-100937634	GM12878	blood:	n/a
13	chr2:100938799-100938849	Hepatocyte	liver:	n/a
14	chr2:100937505-100937555	Jurkat	blood:	n/a
15	chr2:100938903-100938953	NHBE	bronchial:	n/a
16	chr2:100938444-100938494	NHBE	bronchial:	n/a
17	chr2:100938903-100938953	NB4	blood:	n/a
18	chr2:100937944-100937994	T-47D	breast:	n/a
19	chr2:100939284-100939334	HRCEpiC	kidney:	n/a
20	chr2:100937944-100937994	SK-N-MC	brain:	n/a
21	chr2:100938444-100938494	K562	blood:	n/a
22	chr2:100938444-100938494	PFSK-1	brain:	n/a
23	chr2:100937584-100937634	HEK293	kidney:	embryo
24	chr2:100937584-100937634	HIPEpiC	eye:	n/a
25	chr2:100938444-100938494	HMEC	breast:	n/a
26	chr2:100937505-100937555	ECC-1	luminal epithelium:	n/a
27	chr2:100939045-100939095	HL-60	blood:	n/a
28	chr2:100937944-100937994	SK-N-SH_RA	brain:	n/a
29	chr2:100937796-100937846	Jurkat	blood:	n/a
30	chr2:100937944-100937994	Hela-S3	cervix:	n/a
31	chr2:100939477-100939527	MCF10A-Er-Src	breast:	n/a
32	chr2:100939045-100939095	AG04450	lung:	fetal
33	chr2:100939477-100939527	AG04450	lung:	fetal
34	chr2:100939045-100939095	AG10803	skin:	n/a
35	chr2:100939284-100939334	HCF	heart:	n/a
36	chr2:100939284-100939334	A549	lung:	n/a
37	chr2:100938444-100938494	BJ	skin:	n/a
38	chr2:100937944-100937994	AG09319	gingival:	n/a
39	chr2:100938903-100938953	HRPEpiC	eye:	n/a
40	chr2:100937584-100937634	HRPEpiC	eye:	n/a
41	chr2:100938444-100938494	GM12892	blood:	n/a
42	chr2:100937944-100937994	GM06990	blood:	n/a
43	chr2:100938444-100938494	AoSMC	blood vessel:	n/a
44	chr2:100937944-100937994	AG04450	lung:	fetal
45	chr2:100937944-100937994	HNPCEpiC	eye:	n/a
46	chr2:100937796-100937846	HRCEpiC	kidney:	n/a
47	chr2:100937796-100937846	HEK293	kidney:	embryo
48	chr2:100939477-100939527	HNPCEpiC	eye:	n/a
49	chr2:100937796-100937846	HAEpiC	amniotic membrane:	n/a
50	chr2:100938813-100938863	HCT-116	colon:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100937836..100939384-chr2:100985447..100988278,2	K562	blood:
2	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
3	chr2:100937545..100939086-chr2:100943164..100946090,2	K562	blood:
4	chr2:100936347..100938622-chr2:101175344..101178245,2	K562	blood:
5	chr2:100939645..100941794-chr2:101040138..101041675,2	MCF-7	breast:
6	chr2:100936567..100938994-chr2:101033479..101035726,2	MCF-7	breast:
7	chr2:100920038..100923906-chr2:100937053..100939083,4	MCF-7	breast:
8	chr2:100924962..100929082-chr2:100936842..100940898,4	K562	blood:
9	chr2:100907864..100908724-chr2:100937511..100938051,2	MCF-7	breast:
10	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:
11	chr2:100908492..100909141-chr2:100938432..100939141,2	MCF-7	breast:
12	chr2:100908542..100909110-chr2:100937511..100938311,3	MCF-7	breast:
13	chr2:100629972..100631740-chr2:100936209..100938926,2	MCF-7	breast:
14	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:
15	chr2:100877863..100879986-chr2:100936694..100939073,4	MCF-7	breast:
16	chr2:100924962..100929454-chr2:100936842..100940898,4	K562	blood:
17	chr2:100939441..100941644-chr2:100962482..100964041,2	K562	blood:
18	chr2:100919515..100922139-chr2:100935944..100938623,2	K562	blood:

No data

Variant related genes	Relation type
LONRF2	TF binding region
LONRF2	CpG island
ENSG00000269383	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000115526	chromatin interactions
ENSG00000170500	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7582424	chr2:100937407-100937408	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374381953	chr2:100937435-100937436	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546749275	chr2:100937444-100937445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560316200	chr2:100937451-100937452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532049216	chr2:100937459-100937460	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs576356379	chr2:100937465-100937466	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540418345	chr2:100937467-100937468	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs568737862	chr2:100937576-100937577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537894938	chr2:100937643-100937644	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs186116369	chr2:100937650-100937651	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114227746	chr2:100937657-100937658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543747357	chr2:100937687-100937688	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs12617779	chr2:100937707-100937708	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553983453	chr2:100937793-100937794	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190589978	chr2:100937831-100937832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539117094	chr2:100937840-100937841	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs559035392	chr2:100937858-100937859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375391978	chr2:100937892-100937893	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575545224	chr2:100937942-100937943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs544632069	chr2:100937978-100937979	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs372789250	chr2:100937992-100937993	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs561134585	chr2:100938003-100938004	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs377306378	chr2:100938063-100938064	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540546472	chr2:100938117-100938118	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs555773671	chr2:100938137-100938138	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs560279181	chr2:100938165-100938166	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs532595881	chr2:100938193-100938194	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs184118488	chr2:100938205-100938206	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs74177694	chr2:100938226-100938227	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192225848	chr2:100938241-100938242	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs74177695	chr2:100938328-100938329	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567988041	chr2:100938389-100938390	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs527552161	chr2:100938423-100938424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs547751845	chr2:100938444-100938445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs74177696	chr2:100938481-100938482	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200951853	chr2:100938486-100938487	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs558772201	chr2:100938509-100938510	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs569292381	chr2:100938588-100938589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537956488	chr2:100938709-100938710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs11895772	chr2:100938917-100938918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574507291	chr2:100938942-100938943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs11892034	chr2:100938952-100938953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541497678	chr2:100938966-100938967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs554091996	chr2:100938975-100938976	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs560173799	chr2:100939008-100939009	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs577014902	chr2:100939025-100939026	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs372965786	chr2:100939041-100939042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs546338780	chr2:100939044-100939045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs562946018	chr2:100939051-100939052	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs531409489	chr2:100939058-100939059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100918200-100937600	Weak transcription	Aorta	Aorta
2	chr2:100935800-100937400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:100935800-100939400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:100936000-100938800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100936000-100939400	Active TSS	A549	lung
6	chr2:100936400-100937800	Flanking Active TSS	Fetal Brain Female	brain
7	chr2:100936600-100937400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr2:100936800-100937600	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr2:100936800-100939400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:100937000-100937400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:100937000-100937400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr2:100937000-100937400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:100937000-100937400	Active TSS	Pancreas	Pancrea
14	chr2:100937000-100937400	Active TSS	Stomach Mucosa	stomach
15	chr2:100937000-100937600	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr2:100937000-100937600	Active TSS	Fetal Brain Male	brain
17	chr2:100937000-100937600	Flanking Active TSS	K562	blood
18	chr2:100937000-100937800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:100937000-100937800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:100937000-100938000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:100937000-100938000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:100937000-100939200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:100937000-100939400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr2:100937000-100939400	Active TSS	Ovary	ovary
25	chr2:100937000-100939400	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:100937200-100937400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr2:100937200-100937400	Bivalent Enhancer	Fetal Heart	heart
28	chr2:100937200-100937400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
29	chr2:100937200-100937400	Enhancers	Gastric	stomach
30	chr2:100937200-100937400	Active TSS	Psoas Muscle	Psoas
31	chr2:100937200-100937400	Active TSS	Right Ventricle	heart
32	chr2:100937200-100937600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr2:100937200-100937600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:100937200-100937600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr2:100937200-100937600	Bivalent Enhancer	Esophagus	oesophagus
36	chr2:100937200-100937600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr2:100937200-100937600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr2:100937200-100937600	Bivalent Enhancer	Placenta	Placenta
39	chr2:100937200-100937600	Bivalent Enhancer	Fetal Stomach	stomach
40	chr2:100937200-100937600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr2:100937200-100937800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:100937200-100938000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:100937200-100938200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:100937200-100939000	Active TSS	Left Ventricle	heart
45	chr2:100937200-100939000	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:100937200-100939200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:100937200-100939200	Active TSS	Brain Hippocampus Middle	brain
48	chr2:100937200-100939200	Flanking Bivalent TSS/Enh	Lung	lung
49	chr2:100937200-100939400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:100937200-100939400	Active TSS	Brain Anterior Caudate	brain

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