Variant report

Variant	nsv515893
Chromosome Location	chr4:110222845-110254841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:461)
CpG islands
(count:1406)
Chromatin interactive
region (count:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:110254195-110254348	K562	blood:	n/a	n/a
2	BACH1	chr4:110223066-110224582	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr4:110240885-110241220	GM12878	blood:	n/a	n/a
4	BATF	chr4:110240911-110241133	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:110240435-110240629	GM12878	blood:	n/a	n/a
6	BRCA1	chr4:110223703-110223972	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr4:110223628-110223928	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr4:110224192-110224604	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr4:110244304-110244663	K562	blood:	n/a	n/a
10	CBX3	chr4:110234080-110234407	K562	blood:	n/a	n/a
11	CEBPB	chr4:110226070-110226393	Hela-S3	cervix:	n/a	chr4:110226217-110226228 chr4:110226216-110226229
12	CEBPB	chr4:110226083-110226383	IMR90	lung:	n/a	chr4:110226217-110226228 chr4:110226216-110226229
13	CEBPB	chr4:110223692-110224660	Hela-S3	cervix:	n/a	chr4:110224486-110224499
14	CEBPB	chr4:110223715-110224447	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:110226048-110226394	HepG2	liver:	n/a	chr4:110226217-110226228 chr4:110226216-110226229
16	CEBPB	chr4:110226100-110226326	K562	blood:	n/a	chr4:110226217-110226228 chr4:110226216-110226229
17	CHD2	chr4:110223564-110224692	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr4:110223534-110224742	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr4:110226410-110226436	GM12878	blood:	n/a	n/a
20	CHD2	chr4:110222918-110222934	Hela-S3	cervix:	n/a	n/a
21	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:110237040-110237190	HCT-116	colon:	n/a	n/a
23	CTCF	chr4:110237120-110237270	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr4:110237120-110237270	HVMF	connective:	n/a	n/a
25	CTCF	chr4:110254220-110254370	HAc	cerebellar:	n/a	n/a
26	CTCF	chr4:110237080-110237230	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr4:110254200-110254350	HCM	heart:	n/a	n/a
28	CTCF	chr4:110254091-110254470	K562	blood:	n/a	n/a
29	CTCF	chr4:110237000-110237150	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr4:110254260-110254410	GM12871	blood:	n/a	n/a
31	CTCF	chr4:110237120-110237270	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr4:110254204-110254381	Medullo	brain:	n/a	n/a
33	CTCF	chr4:110254200-110254350	BE2_C	brain:	n/a	n/a
34	CTCF	chr4:110237060-110237210	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr4:110254300-110254450	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:110237100-110237250	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr4:110254240-110254390	HCT-116	colon:	n/a	n/a
38	CTCF	chr4:110237120-110237270	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr4:110254260-110254410	GM12865	blood:	n/a	n/a
40	CTCF	chr4:110237060-110237210	HMF	breast:	n/a	n/a
41	CTCF	chr4:110237020-110237170	HRE	kidney:	n/a	n/a
42	CTCF	chr4:110237100-110237250	HCFaa	heart:	n/a	n/a
43	CTCF	chr4:110224380-110224530	HFF	foreskin:	n/a	n/a
44	CTCF	chr4:110254185-110254401	NHEK	skin:	n/a	n/a
45	CTCF	chr4:110254240-110254390	NHEK	skin:	n/a	n/a
46	CTCF	chr4:110237060-110237210	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr4:110254175-110254402	GM19239	blood:	n/a	n/a
48	CTCF	chr4:110254220-110254370	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr4:110254185-110254387	GM10266	blood:	n/a	n/a
50	CTCF	chr4:110254220-110254370	HRPEpiC	eye:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110224247-110224297	SK-N-SH_RA	brain:	n/a
2	chr4:110223429-110223479	SK-N-MC	brain:	n/a
3	chr4:110223830-110223880	HepG2	liver:	n/a
4	chr4:110224247-110224297	SK-N-SH_RA	brain:	n/a
5	chr4:110223429-110223479	SK-N-MC	brain:	n/a
6	chr4:110223830-110223880	HepG2	liver:	n/a
7	chr4:110224036-110224086	AG09319	gingival:	n/a
8	chr4:110223967-110224017	HMEC	breast:	n/a
9	chr4:110223700-110223750	AG04450	lung:	fetal
10	chr4:110223310-110223360	A549	lung:	n/a
11	chr4:110223795-110223845	CMK	blood:	n/a
12	chr4:110223646-110223696	NH-A	brain:	n/a
13	chr4:110224036-110224086	H1-hESC	embryonic stem cell:	embryo
14	chr4:110223959-110224009	HL-60	blood:	n/a
15	chr4:110224247-110224297	T-47D	breast:	n/a
16	chr4:110223646-110223696	HMEC	breast:	n/a
17	chr4:110223795-110223845	HNPCEpiC	eye:	n/a
18	chr4:110222806-110222856	T-47D	breast:	n/a
19	chr4:110223252-110223302	ProgFib	skin:	n/a
20	chr4:110224951-110225001	ovcar-3	ovarian:	n/a
21	chr4:110224235-110224285	HAEpiC	amniotic membrane:	n/a
22	chr4:110223252-110223302	HRE	kidney:	n/a
23	chr4:110224951-110225001	CMK	blood:	n/a
24	chr4:110223795-110223845	HL-60	blood:	n/a
25	chr4:110226500-110226550	GM19239	blood:	n/a
26	chr4:110223646-110223696	HCPEpiC	choroid plexus:	n/a
27	chr4:110223429-110223479	HCT-116	colon:	n/a
28	chr4:110226500-110226550	HCM	heart:	n/a
29	chr4:110223959-110224009	H1-hESC	embryonic stem cell:	embryo
30	chr4:110223646-110223696	MCF-7	breast:	n/a
31	chr4:110223138-110223188	GM06990	blood:	n/a
32	chr4:110223138-110223188	T-47D	breast:	n/a
33	chr4:110223646-110223696	PFSK-1	brain:	n/a
34	chr4:110223310-110223360	GM12892	blood:	n/a
35	chr4:110224036-110224086	PrEC	prostate:	n/a
36	chr4:110223959-110224009	U87	brain:	n/a
37	chr4:110223252-110223302	U87	brain:	n/a
38	chr4:110223967-110224017	SK-N-SH	brain:	n/a
39	chr4:110223795-110223845	HRCEpiC	kidney:	n/a
40	chr4:110224235-110224285	A549	lung:	n/a
41	chr4:110223040-110223090	NH-A	brain:	n/a
42	chr4:110224087-110224137	SK-N-SH	brain:	n/a
43	chr4:110223700-110223750	IMR90	lung:	fetal
44	chr4:110224288-110224338	CMK	blood:	n/a
45	chr4:110223252-110223302	GM12878	blood:	n/a
46	chr4:110223598-110223648	BE2_C	brain:	n/a
47	chr4:110223700-110223750	AG04449	skin:	fetal
48	chr4:110224247-110224297	CMK	blood:	n/a
49	chr4:110224036-110224086	HRPEpiC	eye:	n/a
50	chr4:110223700-110223750	SKMC	muscle:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:82782990..82783526-chr4:110222986..110223918,2	Hela-S3	cervix:
2	chr4:110218875..110224102-chr4:110224433..110228186,5	K562	blood:
3	chr4:109755718..109756283-chr4:110253867..110254732,2	K562	blood:
4	chr4:109755739..109756502-chr4:110253871..110254722,3	MCF-7	breast:
5	chr4:110218875..110221390-chr4:110226425..110229049,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24B-1	chr4:110222877-110223861	NONHSAT097774
2	lnc-SEC24B-1	chr4:110235733-110237291	ENSG00000246774
3	lnc-SEC24B-1	chr4:110234499-110234649	NONHSAT097774
4	lnc-SEC24B-1	chr4:110224191-110224483	ENSG00000246774
5	lnc-SEC24B-1	chr4:110234499-110234597	ENSG00000246774

No data

Variant related genes	Relation type
COL25A1	TF binding region
ENSG00000246774	TF binding region
COL25A1	CpG island
ENSG00000246774	CpG island
ENSG00000246067	chromatin interactions
ENSG00000188517	chromatin interactions
BMP1	miRNA target sites
LRP10	miRNA target sites
DNAJB11	miRNA target sites

Extended variants
information (count: 431 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4464631	chr4:110222845-110222846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372608218	chr4:110222903-110222904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs201684911	chr4:110222934-110222935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs376451065	chr4:110222947-110222948	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs371135740	chr4:110222949-110222950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs202176344	chr4:110222960-110222961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs34727311	chr4:110222972-110222973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549700077	chr4:110222980-110222981	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs371263977	chr4:110222981-110222982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs35861316	chr4:110222997-110222998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs550767351	chr4:110223003-110223004	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs200797889	chr4:110223019-110223020	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs184231562	chr4:110223025-110223026	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs201162812	chr4:110223046-110223047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs565780101	chr4:110223078-110223079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs375003964	chr4:110223101-110223102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs534388845	chr4:110223108-110223109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs367728430	chr4:110223113-110223114	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs200071713	chr4:110223119-110223120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs376690576	chr4:110223125-110223126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs372583416	chr4:110223167-110223168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs577543045	chr4:110223169-110223170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs540028136	chr4:110223181-110223182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs541262755	chr4:110223204-110223205	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs556941067	chr4:110223263-110223264	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs372659211	chr4:110223281-110223282	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs576760284	chr4:110223293-110223294	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs1859143	chr4:110223320-110223321	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189457096	chr4:110223370-110223371	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs538054699	chr4:110223371-110223372	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs553101805	chr4:110223406-110223407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs572524245	chr4:110223488-110223489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs541194018	chr4:110223491-110223492	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs564587175	chr4:110223526-110223527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs374448239	chr4:110223535-110223536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs543211637	chr4:110223569-110223570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs563245132	chr4:110223584-110223585	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs529112306	chr4:110223633-110223634	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs181929323	chr4:110223732-110223733	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs6843376	chr4:110223733-110223734	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368391616	chr4:110223771-110223772	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs565513641	chr4:110223790-110223791	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs528069389	chr4:110223846-110223847	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs72892764	chr4:110223859-110223860	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs571360694	chr4:110223861-110223862	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs11098032	chr4:110223885-110223886	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540038783	chr4:110223906-110223907	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs556752666	chr4:110223907-110223908	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs570376586	chr4:110223921-110223922	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs535745737	chr4:110223922-110223923	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110207400-110223000	Weak transcription	Aorta	Aorta
2	chr4:110221600-110224200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
3	chr4:110221800-110223000	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr4:110221800-110224600	Active TSS	Hela-S3	cervix
5	chr4:110222000-110223000	Active TSS	HSMM	muscle
6	chr4:110222200-110224600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:110222400-110223000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr4:110222600-110223000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:110222600-110223000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr4:110222600-110223000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:110222600-110223000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr4:110222600-110223000	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr4:110222600-110223000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr4:110222600-110223000	Enhancers	Pancreas	Pancrea
15	chr4:110222600-110223000	Bivalent Enhancer	Thymus	Thymus
16	chr4:110222600-110223200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:110222600-110223200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:110222600-110223200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:110222600-110223400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
24	chr4:110222600-110223400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr4:110222600-110223800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
27	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
31	chr4:110222800-110223000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:110222800-110223000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:110222800-110223000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr4:110222800-110223000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr4:110222800-110223000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr4:110222800-110223000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr4:110222800-110223000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:110222800-110223000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr4:110222800-110223000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:110222800-110223000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:110222800-110223000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:110222800-110223000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr4:110222800-110223000	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr4:110222800-110223000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
47	chr4:110222800-110223000	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr4:110222800-110223000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr4:110222800-110223000	Bivalent Enhancer	HUVEC	blood vessel
50	chr4:110222800-110223000	Bivalent/Poised TSS	NH-A	brain

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