Variant report

Variant	nsv593548
Chromosome Location	chr4:7043099-7045945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:615)
CpG islands
(count:1098)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:7044760-7044954	K562	blood:	n/a	n/a
2	ARID3A	chr4:7044722-7044922	HepG2	liver:	n/a	n/a
3	BACH1	chr4:7044587-7045024	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:7044082-7044194	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr4:7045671-7046237	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:7044156-7044392	K562	blood:	n/a	n/a
7	BHLHE40	chr4:7044640-7044927	K562	blood:	n/a	chr4:7044684-7044700
8	BHLHE40	chr4:7044618-7045423	GM12878	blood:	n/a	chr4:7044926-7044942 chr4:7044684-7044700
9	BHLHE40	chr4:7045367-7045662	K562	blood:	n/a	n/a
10	BRCA1	chr4:7044749-7044921	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr4:7044684-7044922	K562	blood:	n/a	n/a
12	CCNT2	chr4:7044207-7046106	K562	blood:	n/a	n/a
13	CEBPB	chr4:7045725-7046023	A549	lung:	n/a	n/a
14	CEBPB	chr4:7045729-7046021	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:7045713-7046083	K562	blood:	n/a	n/a
16	CEBPB	chr4:7045752-7045963	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:7045622-7045965	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr4:7044885-7045231	HepG2	liver:	n/a	n/a
19	CHD1	chr4:7045356-7045857	GM12878	blood:	n/a	n/a
20	CHD1	chr4:7045256-7046943	IMR90	lung:	n/a	n/a
21	CHD2	chr4:7045639-7045945	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr4:7045380-7045488	HepG2	liver:	n/a	n/a
23	CHD2	chr4:7044505-7045125	Hela-S3	cervix:	n/a	chr4:7044936-7044946
24	CHD2	chr4:7044478-7044859	HepG2	liver:	n/a	n/a
25	CHD2	chr4:7043836-7043853	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr4:7044120-7044260	K562	blood:	n/a	n/a
27	CHD2	chr4:7044618-7044979	H1-hESC	embryonic stem cell:	n/a	chr4:7044936-7044946
28	CHD2	chr4:7044530-7045008	GM12878	blood:	n/a	chr4:7044936-7044946
29	CHD2	chr4:7045316-7045828	GM12878	blood:	n/a	n/a
30	CHD2	chr4:7044591-7045017	K562	blood:	n/a	chr4:7044936-7044946
31	CREB1	chr4:7044477-7045156	GM12878	blood:	n/a	n/a
32	CREB1	chr4:7044536-7045007	HepG2	liver:	n/a	n/a
33	CREB1	chr4:7044570-7045005	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr4:7044497-7045106	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr4:7044100-7046023	HepG2	liver:	n/a	n/a
36	CREB1	chr4:7044526-7045083	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr4:7044532-7045192	A549	lung:	n/a	n/a
38	CTCF	chr4:7044920-7045070	AG10803	skin:	n/a	n/a
39	CTCF	chr4:7043620-7043770	HRE	kidney:	n/a	n/a
40	CTCF	chr4:7044680-7044830	K562	blood:	n/a	n/a
41	CTCF	chr4:7044719-7045145	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr4:7044854-7045117	HepG2	liver:	n/a	n/a
43	CTCF	chr4:7044901-7045145	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:7044960-7045110	GM12871	blood:	n/a	n/a
45	CTCF	chr4:7044902-7045124	ProgFib	skin:	n/a	n/a
46	CTCF	chr4:7044881-7045169	MCF-7	breast:	n/a	n/a
47	CTCF	chr4:7044892-7045071	Lung_OC	lung:	n/a	n/a
48	CTCF	chr4:7044869-7045171	GM19240	blood:	n/a	n/a
49	CTCF	chr4:7044900-7045050	HepG2	liver:	n/a	n/a
50	CTCF	chr4:7043960-7044110	AG04449	skin:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7043935-7043985	AG09309	skin:	n/a
2	chr4:7044737-7044787	AG09319	gingival:	n/a
3	chr4:7045168-7045218	HMEC	breast:	n/a
4	chr4:7043168-7043218	NT2-D1	testis:	n/a
5	chr4:7044859-7044909	T-47D	breast:	n/a
6	chr4:7044978-7045028	HNPCEpiC	eye:	n/a
7	chr4:7044983-7045033	AG10803	skin:	n/a
8	chr4:7043077-7043127	AG04450	lung:	fetal
9	chr4:7044983-7045033	NB4	blood:	n/a
10	chr4:7044983-7045033	HAEpiC	amniotic membrane:	n/a
11	chr4:7044735-7044785	SAEC	small airway:	n/a
12	chr4:7044735-7044785	PANC-1	pancreas:	n/a
13	chr4:7044735-7044785	HCT-116	colon:	n/a
14	chr4:7044863-7044913	H1-hESC	embryonic stem cell:	embryo
15	chr4:7045168-7045218	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:7044978-7045028	HMEC	breast:	n/a
17	chr4:7044737-7044787	AG04450	lung:	fetal
18	chr4:7044737-7044787	H1-hESC	embryonic stem cell:	embryo
19	chr4:7044595-7044645	IMR90	lung:	fetal
20	chr4:7043077-7043127	HRCEpiC	kidney:	n/a
21	chr4:7044968-7045018	SAEC	small airway:	n/a
22	chr4:7045168-7045218	HEEpiC	esophagus:	n/a
23	chr4:7043077-7043127	GM12892	blood:	n/a
24	chr4:7044595-7044645	PANC-1	pancreas:	n/a
25	chr4:7044990-7045040	NHBE	bronchial:	n/a
26	chr4:7043077-7043127	HCF	heart:	n/a
27	chr4:7043264-7043314	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:7044595-7044645	PrEC	prostate:	n/a
29	chr4:7044981-7045031	SK-N-MC	brain:	n/a
30	chr4:7044981-7045031	GM06990	blood:	n/a
31	chr4:7044873-7044923	HCM	heart:	n/a
32	chr4:7043935-7043985	MCF10A-Er-Src	breast:	n/a
33	chr4:7044983-7045033	NHBE	bronchial:	n/a
34	chr4:7044595-7044645	CMK	blood:	n/a
35	chr4:7044863-7044913	NHBE	bronchial:	n/a
36	chr4:7044737-7044787	NHBE	bronchial:	n/a
37	chr4:7043077-7043127	HIPEpiC	eye:	n/a
38	chr4:7044968-7045018	AG09319	gingival:	n/a
39	chr4:7043168-7043218	BE2_C	brain:	n/a
40	chr4:7044990-7045040	NHDF-neo	bronchial:	n/a
41	chr4:7044859-7044909	ProgFib	skin:	n/a
42	chr4:7043077-7043127	GM12891	blood:	n/a
43	chr4:7044595-7044645	PFSK-1	brain:	n/a
44	chr4:7044873-7044923	SK-N-MC	brain:	n/a
45	chr4:7044981-7045031	Jurkat	blood:	n/a
46	chr4:7044595-7044645	HAEpiC	amniotic membrane:	n/a
47	chr4:7045720-7045770	GM12892	blood:	n/a
48	chr4:7045168-7045218	U87	brain:	n/a
49	chr4:7043168-7043218	HepG2	liver:	n/a
50	chr4:7043935-7043985	Hela-S3	cervix:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
2	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
3	chr4:6711584..6713629-chr4:7043225..7044994,2	MCF-7	breast:
4	chr4:7031028..7032644-chr4:7045295..7046851,2	MCF-7	breast:
5	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
6	chr10:79691250..79693205-chr4:7045398..7046907,2	MCF-7	breast:
7	chr4:7044811..7045632-chr4:7069385..7070353,2	NB4	blood:
8	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:
9	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
10	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
11	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
12	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
13	chr4:7041068..7043471-chr4:7072135..7073962,2	K562	blood:
14	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:
15	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:
16	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:

No data

Variant related genes	Relation type
TADA2B	TF binding region
CCDC96	TF binding region
TADA2B	CpG island
CCDC96	CpG island
ENSG00000255073	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000170846	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000245468	chromatin interactions
ENSG00000178988	chromatin interactions
ENSG00000186660	chromatin interactions
ENSG00000251580	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34275081	chr4:7043099-7043100	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374088335	chr4:7043112-7043113	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368331948	chr4:7043141-7043142	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200501516	chr4:7043147-7043148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372138758	chr4:7043177-7043178	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146947320	chr4:7043198-7043199	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs564230447	chr4:7043212-7043213	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs202125430	chr4:7043236-7043237	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560852890	chr4:7043250-7043251	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531167689	chr4:7043270-7043271	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546756530	chr4:7043272-7043273	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs561772700	chr4:7043273-7043274	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs529196651	chr4:7043309-7043310	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550896890	chr4:7043342-7043343	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs149133190	chr4:7043343-7043344	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201520565	chr4:7043350-7043351	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs34995133	chr4:7043361-7043362	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs200338298	chr4:7043401-7043402	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs368518114	chr4:7043430-7043431	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs200414742	chr4:7043446-7043447	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs199796507	chr4:7043449-7043450	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112418088	chr4:7043454-7043455	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs149470626	chr4:7043471-7043472	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs372245481	chr4:7043477-7043478	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs534074351	chr4:7043507-7043508	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs201473691	chr4:7043525-7043526	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs374689060	chr4:7043529-7043530	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs200832707	chr4:7043539-7043540	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs143021792	chr4:7043546-7043547	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs564940150	chr4:7043559-7043560	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs200608575	chr4:7043575-7043576	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs377449312	chr4:7043578-7043579	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs148175400	chr4:7043594-7043595	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs201982722	chr4:7043598-7043599	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs574868062	chr4:7043607-7043608	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs369900664	chr4:7043630-7043631	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372041606	chr4:7043683-7043684	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141992507	chr4:7043700-7043701	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs200146451	chr4:7043726-7043727	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs199844890	chr4:7043771-7043772	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs59204906	chr4:7043778-7043779	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114895671	chr4:7043795-7043796	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs201971169	chr4:7043823-7043824	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs142049391	chr4:7043830-7043831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs200732240	chr4:7043843-7043844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs377461773	chr4:7043864-7043865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs561818755	chr4:7043865-7043866	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs370637587	chr4:7043886-7043887	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs375345995	chr4:7043900-7043901	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs376178176	chr4:7043904-7043905	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
2	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
3	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:7018400-7043200	Weak transcription	Fetal Heart	heart
5	chr4:7032800-7044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:7033000-7043600	Weak transcription	Fetal Kidney	kidney
7	chr4:7033200-7043600	Weak transcription	Fetal Brain Male	brain
8	chr4:7033400-7043200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:7033400-7043400	Weak transcription	HUVEC	blood vessel
10	chr4:7033800-7043800	Weak transcription	Small Intestine	intestine
11	chr4:7034400-7043400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:7034400-7043600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:7034400-7043800	Weak transcription	Dnd41	blood
14	chr4:7034400-7044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:7034400-7044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:7034600-7043200	Weak transcription	Fetal Brain Female	brain
17	chr4:7034600-7043200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:7034600-7043400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:7034600-7043600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7034600-7043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:7034800-7043600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:7035000-7043800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:7035200-7043200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:7035400-7043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:7037000-7043200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7037000-7043400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:7037000-7043400	Weak transcription	HSMM	muscle
28	chr4:7037000-7043600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:7037000-7043800	Weak transcription	NHEK	skin
30	chr4:7037200-7043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:7037400-7043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:7037600-7043400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:7038400-7043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:7038600-7043200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:7038600-7043200	Weak transcription	NH-A	brain
36	chr4:7039000-7043200	Weak transcription	NHLF	lung
37	chr4:7039000-7043200	Weak transcription	Osteobl	bone
38	chr4:7039400-7043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7040000-7044000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:7040200-7043800	Weak transcription	K562	blood
41	chr4:7042400-7043600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:7042600-7044200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:7042800-7043200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:7042800-7043400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:7042800-7043400	Enhancers	Brain Angular Gyrus	brain
46	chr4:7042800-7043400	Weak transcription	A549	lung
47	chr4:7042800-7043600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:7042800-7043600	Genic enhancers	Fetal Intestine Small	intestine
49	chr4:7043000-7043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:7043000-7043200	Enhancers	Primary neutrophils fromperipheralblood	blood

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