Variant report

Variant	nsv878551
Chromosome Location	chr4:7297506-7376694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr4:7325347-7326029	A549	lung:	n/a	n/a
2	ATF3	chr4:7325569-7325906	A549	lung:	n/a	n/a
3	BACH1	chr4:7351001-7351177	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr4:7309436-7309751	GM12878	blood:	n/a	n/a
5	BCL3	chr4:7309477-7309799	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:7297759-7297998	K562	blood:	n/a	chr4:7297811-7297827
7	BHLHE40	chr4:7326359-7326668	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:7342329-7342469	K562	blood:	n/a	chr4:7342363-7342376
9	BHLHE40	chr4:7297755-7297955	GM12878	blood:	n/a	chr4:7297811-7297827
10	BHLHE40	chr4:7332888-7333034	K562	blood:	n/a	chr4:7332974-7332983 chr4:7332968-7332989 chr4:7332975-7332984 chr4:7332974-7332983 chr4:7332972-7332985
11	BHLHE40	chr4:7337542-7337783	K562	blood:	n/a	n/a
12	BHLHE40	chr4:7371415-7371470	K562	blood:	n/a	n/a
13	BRCA1	chr4:7297940-7298009	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr4:7360137-7360214	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr4:7297835-7297868	GM12878	blood:	n/a	n/a
16	BRCA1	chr4:7337624-7337876	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr4:7314975-7315351	IMR90	lung:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
18	CEBPB	chr4:7350688-7351037	K562	blood:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
19	CEBPB	chr4:7314937-7315345	MCF-7	breast:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
20	CEBPB	chr4:7315082-7315202	HepG2	liver:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
21	CEBPB	chr4:7350773-7351029	MCF-7	breast:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
22	CEBPB	chr4:7314946-7315363	MCF-7	breast:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
23	CEBPB	chr4:7350739-7350998	Hela-S3	cervix:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
24	CEBPB	chr4:7314977-7315363	H1-hESC	embryonic stem cell:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
25	CEBPB	chr4:7350683-7351098	A549	lung:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
26	CEBPB	chr4:7315008-7315270	K562	blood:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
27	CEBPB	chr4:7349851-7350214	A549	lung:	n/a	n/a
28	CEBPB	chr4:7315017-7315331	Hela-S3	cervix:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
29	CEBPB	chr4:7360151-7360464	IMR90	lung:	n/a	n/a
30	CEBPB	chr4:7314956-7315381	ECC-1	luminal epithelium:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
31	CEBPB	chr4:7350681-7351058	IMR90	lung:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
32	CEBPB	chr4:7314977-7315349	HepG2	liver:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
33	CEBPB	chr4:7324654-7324913	IMR90	lung:	n/a	chr4:7324854-7324865
34	CEBPB	chr4:7314975-7315352	K562	blood:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
35	CEBPB	chr4:7350726-7351008	H1-hESC	embryonic stem cell:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
36	CEBPB	chr4:7314905-7315396	A549	lung:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
37	CEBPB	chr4:7350677-7351048	A549	lung:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
38	CEBPB	chr4:7360125-7360418	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:7314974-7315334	A549	lung:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
40	CEBPB	chr4:7314983-7315346	A549	lung:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
41	CEBPB	chr4:7350554-7351087	A549	lung:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
42	CEBPB	chr4:7315029-7315275	ECC-1	luminal epithelium:	n/a	chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315161-7315170 chr4:7315160-7315171 chr4:7315161-7315170
43	CEBPB	chr4:7324731-7324857	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:7350682-7351059	HepG2	liver:	n/a	chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872 chr4:7350863-7350872
45	CHD2	chr4:7337159-7337242	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr4:7337880-7338030	AG04450	lung:	n/a	n/a
47	CTCF	chr4:7297712-7298006	MCF-7	breast:	n/a	chr4:7297850-7297868 chr4:7297851-7297867 chr4:7297857-7297865 chr4:7297845-7297866
48	CTCF	chr4:7297674-7298024	A549	lung:	n/a	chr4:7297850-7297868 chr4:7297851-7297867 chr4:7297857-7297865 chr4:7297845-7297866
49	CTCF	chr4:7325740-7325890	AG04449	skin:	n/a	n/a
50	CTCF	chr4:7309180-7309330	HCM	heart:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7338792-7338842	GM12891	blood:	n/a
2	chr4:7338792-7338842	GM12891	blood:	n/a
3	chr4:7326576-7326626	HCF	heart:	n/a
4	chr4:7304739-7304789	A549	lung:	n/a
5	chr4:7338792-7338842	CMK	blood:	n/a
6	chr4:7301854-7301904	HNPCEpiC	eye:	n/a
7	chr4:7301491-7301541	HEK293	kidney:	embryo
8	chr4:7301594-7301644	AG10803	skin:	n/a
9	chr4:7338792-7338842	SK-N-SH_RA	brain:	n/a
10	chr4:7373088-7373138	NH-A	brain:	n/a
11	chr4:7326576-7326626	Hela-S3	cervix:	n/a
12	chr4:7373088-7373138	SKMC	muscle:	n/a
13	chr4:7301594-7301644	ProgFib	skin:	n/a
14	chr4:7374669-7374719	HEK293	kidney:	embryo
15	chr4:7301529-7301579	MCF10A-Er-Src	breast:	n/a
16	chr4:7301176-7301226	NHBE	bronchial:	n/a
17	chr4:7338730-7338780	MCF-7	breast:	n/a
18	chr4:7301491-7301541	GM12892	blood:	n/a
19	chr4:7304739-7304789	PrEC	prostate:	n/a
20	chr4:7374582-7374632	BE2_C	brain:	n/a
21	chr4:7333381-7333431	AG10803	skin:	n/a
22	chr4:7304739-7304789	NT2-D1	testis:	n/a
23	chr4:7338792-7338842	MCF-7	breast:	n/a
24	chr4:7301854-7301904	AoSMC	blood vessel:	n/a
25	chr4:7304739-7304789	RPTEC	kidney:	n/a
26	chr4:7301594-7301644	PFSK-1	brain:	n/a
27	chr4:7373022-7373072	SK-N-MC	brain:	n/a
28	chr4:7373065-7373115	K562	blood:	n/a
29	chr4:7338792-7338842	Jurkat	blood:	n/a
30	chr4:7300999-7301049	HNPCEpiC	eye:	n/a
31	chr4:7337225-7337275	PFSK-1	brain:	n/a
32	chr4:7373022-7373072	NH-A	brain:	n/a
33	chr4:7373375-7373425	HCPEpiC	choroid plexus:	n/a
34	chr4:7368808-7368858	GM12878	blood:	n/a
35	chr4:7338730-7338780	BE2_C	brain:	n/a
36	chr4:7304739-7304789	SK-N-SH_RA	brain:	n/a
37	chr4:7301529-7301579	HCF	heart:	n/a
38	chr4:7373375-7373425	PFSK-1	brain:	n/a
39	chr4:7301823-7301873	HRE	kidney:	n/a
40	chr4:7338730-7338780	LNCaP	prostate:	n/a
41	chr4:7326576-7326626	HepG2	liver:	n/a
42	chr4:7304777-7304827	HepG2	liver:	n/a
43	chr4:7338792-7338842	AG09319	gingival:	n/a
44	chr4:7373022-7373072	AG10803	skin:	n/a
45	chr4:7373088-7373138	ovcar-3	ovarian:	n/a
46	chr4:7374582-7374632	Hepatocyte	liver:	n/a
47	chr4:7373088-7373138	HRPEpiC	eye:	n/a
48	chr4:7326576-7326626	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:7304739-7304789	SAEC	small airway:	n/a
50	chr4:7301491-7301541	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7193444..7195418-chr4:7373102..7374832,2	MCF-7	breast:
2	chr4:7344494..7346063-chr4:7349701..7352195,2	MCF-7	breast:
3	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:
4	chr4:7196173..7199298-chr4:7297617..7300967,3	MCF-7	breast:
5	chr4:7193728..7194793-chr4:7297053..7298951,15	MCF-7	breast:
6	chr4:7308048..7310472-chr4:7320955..7323841,2	MCF-7	breast:
7	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
8	chr4:7368964..7371820-chr4:7419661..7422236,2	K562	blood:
9	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
10	chr4:7320638..7322307-chr4:7344162..7346358,2	K562	blood:
11	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:
12	chr4:7308048..7310472-chr4:7320955..7323841,2	MCF-7	breast:
13	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
14	chr4:7320638..7322307-chr4:7344162..7346358,2	K562	blood:
15	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
16	chr4:7193764..7194622-chr4:7297791..7298316,3	K562	blood:
17	chr4:7375155..7379159-chr4:7380747..7383834,3	K562	blood:
18	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
19	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:
20	chr4:7195636..7196730-chr4:7297372..7298445,9	MCF-7	breast:
21	chr4:7153324..7154166-chr4:7297397..7298037,2	MCF-7	breast:
22	chr4:7207636..7209824-chr4:7302272..7304285,2	MCF-7	breast:
23	chr4:7368817..7370379-chr4:7371392..7373136,2	MCF-7	breast:
24	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
25	chr4:7193590..7194707-chr4:7297338..7298352,5	MCF-7	breast:
26	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
27	chr4:7195671..7196829-chr4:7297061..7298292,4	MCF-7	breast:
28	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
29	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
30	chr4:7368817..7370379-chr4:7371392..7373136,2	MCF-7	breast:
31	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
32	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
33	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
34	chr4:7192934..7196110-chr4:7296657..7299976,3	MCF-7	breast:
35	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
36	chr4:7344494..7346063-chr4:7349701..7352195,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4798-3p	chr4:7312223-7312244	MIMAT0019975
hsa-miR-4798-5p	chr4:7312186-7312207	MIMAT0019974

Variant related genes	Relation type
MIR4798	TF binding region
MIR4798	CpG island
ENSG00000184985	chromatin interactions

Extended variants
information (count: 4344 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4344 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12498790	chr4:7297506-7297507	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs536750007	chr4:7297523-7297524	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183484405	chr4:7297534-7297535	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113313696	chr4:7297556-7297557	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188553770	chr4:7297600-7297601	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181185253	chr4:7297607-7297608	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559171545	chr4:7297621-7297622	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141051275	chr4:7297622-7297623	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149833466	chr4:7297629-7297630	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553825757	chr4:7297648-7297649	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571899580	chr4:7297682-7297683	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61035716	chr4:7297688-7297689	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112320412	chr4:7297747-7297748	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557979636	chr4:7297748-7297749	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147791668	chr4:7297758-7297759	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115923649	chr4:7297766-7297767	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs59410125	chr4:7297802-7297803	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186030074	chr4:7297821-7297822	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532293611	chr4:7297842-7297843	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189929583	chr4:7297867-7297868	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559706365	chr4:7297898-7297899	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530079650	chr4:7297902-7297903	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548559379	chr4:7297952-7297953	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570079038	chr4:7297953-7297954	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537528088	chr4:7297982-7297983	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368480046	chr4:7297983-7297984	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538723438	chr4:7297997-7297998	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552819928	chr4:7298004-7298005	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571030494	chr4:7298058-7298059	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535340710	chr4:7298063-7298064	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371912842	chr4:7298107-7298108	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547458191	chr4:7298149-7298150	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367972315	chr4:7298180-7298181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113675866	chr4:7298203-7298204	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575070246	chr4:7298211-7298212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535916041	chr4:7298220-7298221	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554529866	chr4:7298221-7298222	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182501378	chr4:7298287-7298288	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576069838	chr4:7298290-7298291	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536807798	chr4:7298291-7298292	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543083265	chr4:7298298-7298299	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558332114	chr4:7298306-7298307	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187304460	chr4:7298313-7298314	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371402085	chr4:7298326-7298327	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192160001	chr4:7298357-7298358	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559435385	chr4:7298393-7298394	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529978522	chr4:7298442-7298443	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555010293	chr4:7298453-7298454	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540313717	chr4:7298469-7298470	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563667130	chr4:7298500-7298501	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1187 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7293600-7300200	Weak transcription	Fetal Lung	lung
2	chr4:7293800-7304400	Weak transcription	Gastric	stomach
3	chr4:7296800-7297800	Enhancers	Fetal Stomach	stomach
4	chr4:7296800-7298000	Enhancers	Right Ventricle	heart
5	chr4:7296800-7301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:7297000-7297600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7297000-7297600	Enhancers	Spleen	Spleen
8	chr4:7297000-7297600	Active TSS	HSMM	muscle
9	chr4:7297000-7297800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7297000-7297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:7297000-7297800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:7297000-7297800	Enhancers	Left Ventricle	heart
13	chr4:7297000-7297800	Enhancers	Ovary	ovary
14	chr4:7297000-7297800	Enhancers	Right Atrium	heart
15	chr4:7297000-7298000	Enhancers	NH-A	brain
16	chr4:7297000-7302000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:7297000-7302000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:7297200-7297600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7297200-7297600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:7297200-7297600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:7297200-7297600	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr4:7297200-7297600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr4:7297200-7297600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:7297200-7297600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:7297200-7297600	Flanking Active TSS	Colonic Mucosa	Colon
26	chr4:7297200-7297600	Enhancers	Lung	lung
27	chr4:7297200-7297600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr4:7297200-7297600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr4:7297200-7297800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:7297200-7297800	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr4:7297200-7297800	Enhancers	Liver	Liver
32	chr4:7297200-7297800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr4:7297200-7298000	Enhancers	Brain Angular Gyrus	brain
34	chr4:7297400-7297600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:7297400-7297600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr4:7297400-7297600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:7297400-7297600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr4:7297400-7297800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:7297400-7297800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr4:7297400-7297800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr4:7297400-7297800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr4:7297400-7298000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:7297400-7300400	Enhancers	Brain Germinal Matrix	brain
44	chr4:7297400-7301000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:7297600-7297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:7297600-7297800	Enhancers	Colon Smooth Muscle	Colon
47	chr4:7297600-7297800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:7297600-7297800	Enhancers	Rectal Smooth Muscle	rectum
49	chr4:7297600-7297800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr4:7297600-7298000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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