Variant report

Variant	rs6867914
Chromosome Location	chr5:111702746-111702747
allele	C/T
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	CEBPB	chr5:111702652-111703142	MCF-7	breast:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
2	CTCF	chr5:111702740-111702990	AG04450	lung:	n/a	n/a
3	ZNF143	chr5:111702720-111703014	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr5:111702740-111702890	HEK293	kidney:	n/a	n/a
5	RAD21	chr5:111702714-111703028	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr5:111702572-111703054	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:111702709-111702992	K562	blood:	n/a	n/a
8	CTCF	chr5:111702708-111703027	K562	blood:	n/a	n/a
9	CTCF	chr5:111702721-111702975	HepG2	liver:	n/a	n/a
10	RAD21	chr5:111702740-111702946	GM12878	blood:	n/a	n/a
11	CTCF	chr5:111702700-111702850	GM12869	blood:	n/a	n/a
12	RAD21	chr5:111702651-111703161	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr5:111702693-111702997	A549	lung:	n/a	n/a
14	CTCF	chr5:111702660-111702810	BJ	skin:	n/a	n/a
15	CEBPB	chr5:111702740-111703139	K562	blood:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
16	CHD2	chr5:111702616-111702890	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:111702711-111703085	K562	blood:	n/a	n/a
18	CTCF	chr5:111702697-111702976	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr5:111702618-111703138	ECC-1	luminal epithelium:	n/a	n/a
20	SMC3	chr5:111702711-111703075	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr5:111702687-111703183	MCF-7	breast:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
22	CTCF	chr5:111702439-111703169	A549	lung:	n/a	n/a
23	CTCF	chr5:111702674-111703031	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:111702735-111703005	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:111702740-111702890	WERI-Rb-1	eye:	n/a	n/a
26	GATA1	chr5:111702671-111703407	PBDE	blood:	n/a	chr5:111703112-111703120
27	CTCF	chr5:111702640-111702790	A549	lung:	n/a	n/a
28	CTCF	chr5:111702740-111702890	GM12867	blood:	n/a	n/a
29	CTCF	chr5:111702660-111702982	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr5:111702726-111702969	SK-N-SH_RA	brain:	n/a	n/a
31	RAD21	chr5:111702652-111703145	MCF-7	breast:	n/a	n/a
32	CEBPB	chr5:111702725-111703104	Hela-S3	cervix:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
33	RAD21	chr5:111702688-111703058	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr5:111702741-111703053	GM12878	blood:	n/a	n/a
35	RAD21	chr5:111702725-111702999	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111545913..111546803-chr5:111702693..111703411,4	MCF-7	breast:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248350	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10039730	1.00[CHB][hapmap]
rs10044406	1.00[CHB][hapmap]
rs10051512	1.00[CHB][hapmap]
rs10060962	1.00[CHB][hapmap]
rs10061025	1.00[CHB][hapmap]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10068969	1.00[CHB][hapmap]
rs10068974	1.00[CHB][hapmap]
rs10069608	1.00[CHB][hapmap]
rs10069773	1.00[CHB][hapmap]
rs10071058	1.00[CHB][hapmap]
rs10071862	1.00[CHB][hapmap]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13354202	1.00[CHB][hapmap]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524423	1.00[CHB][hapmap]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134335	0.82[ASN][1000 genomes]
rs17134381	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17134382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17134384	0.92[ASN][1000 genomes]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134454	1.00[CHB][hapmap]
rs17134478	1.00[CHB][hapmap]
rs17134503	1.00[CHB][hapmap]
rs17134505	1.00[CHB][hapmap]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56018262	0.84[ASN][1000 genomes]
rs57004301	0.84[ASN][1000 genomes]
rs57211830	0.84[ASN][1000 genomes]
rs57778181	0.84[ASN][1000 genomes]
rs60021992	0.84[ASN][1000 genomes]
rs60193147	0.84[ASN][1000 genomes]
rs60730910	0.84[ASN][1000 genomes]
rs60806157	0.84[ASN][1000 genomes]
rs60836718	0.84[ASN][1000 genomes]
rs6594590	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6594594	1.00[CHB][hapmap]
rs6594596	1.00[CHB][hapmap]
rs66537821	0.92[ASN][1000 genomes]
rs6860402	1.00[CHB][hapmap]
rs6863425	0.92[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap]
rs6865127	1.00[CHB][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6875349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878092	1.00[CHB][hapmap]
rs6878158	1.00[CHB][hapmap]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap]
rs721055	1.00[CHB][hapmap]
rs7702999	1.00[CHB][hapmap]
rs7706551	1.00[CHB][hapmap]
rs7706737	1.00[CHB][hapmap]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709879	1.00[CHB][hapmap]
rs7709963	1.00[CHB][hapmap]
rs7710041	1.00[CHB][hapmap]
rs7710507	1.00[CHB][hapmap]
rs7714258	1.00[JPT][hapmap]
rs7716246	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7716394	1.00[JPT][hapmap]
rs7720272	1.00[ASN][1000 genomes]
rs7725728	1.00[CHB][hapmap]
rs7730739	1.00[CHB][hapmap]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7737622	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs821739	1.00[JPT][hapmap]
rs821746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821750	0.84[ASN][1000 genomes]
rs9326853	1.00[CHB][hapmap]
rs985873	1.00[CHB][hapmap]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999243	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111685200-111707000	Weak transcription	Ovary	ovary
2	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
3	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
4	chr5:111693800-111703200	Weak transcription	Right Ventricle	heart
5	chr5:111701400-111703600	Enhancers	Fetal Heart	heart
6	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111701800-111704600	Enhancers	Right Atrium	heart
8	chr5:111701800-111704800	Enhancers	Left Ventricle	heart
9	chr5:111702200-111702800	Enhancers	Gastric	stomach
10	chr5:111702600-111702800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:111702600-111703400	Enhancers	Adipose Nuclei	Adipose
12	chr5:111702600-111703400	Enhancers	Spleen	Spleen
13	chr5:111702600-111703400	Enhancers	Hela-S3	cervix
14	chr5:111702600-111703400	Enhancers	K562	blood
15	chr5:111702600-111704000	Weak transcription	Lung	lung

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