Variant report

Variant	rs1465911
Chromosome Location	chr8:96214194-96214195
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	TCF7L2	chr8:96213772-96214844	Hela-S3	cervix:	n/a	chr8:96214451-96214460 chr8:96214448-96214464 chr8:96214448-96214464 chr8:96214449-96214463
2	TAL1	chr8:96214177-96214347	K562	blood:	n/a	n/a
3	TFAP2C	chr8:96213987-96214507	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr8:96214187-96214406	Hela-S3	cervix:	n/a	n/a
5	GATA1	chr8:96213944-96214512	PBDE	blood:	n/a	chr8:96214281-96214288 chr8:96214279-96214289 chr8:96214279-96214288
6	CHD2	chr8:96214105-96214300	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr8:96214154-96214328	Hela-S3	cervix:	n/a	n/a
8	NR2F2	chr8:96213937-96214652	MCF-7	breast:	n/a	chr8:96214298-96214313
9	NR2F2	chr8:96213956-96214603	MCF-7	breast:	n/a	chr8:96214298-96214313
10	GATA3	chr8:96214022-96214500	MCF-7	breast:	n/a	chr8:96214281-96214288 chr8:96214279-96214289 chr8:96214279-96214288
11	BRCA1	chr8:96214094-96214463	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96214177..96216026-chr8:96245562..96248226,2	MCF-7	breast:
2	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
3	chr8:96210411..96214534-chr8:96214869..96218158,4	K562	blood:
4	chr8:96213872..96215410-chr8:96281018..96283394,2	MCF-7	breast:
5	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
6	chr8:96214009..96217041-chr8:96227079..96229399,3	K562	blood:
7	chr8:96203588..96205355-chr8:96213750..96216635,2	MCF-7	breast:
8	chr8:96201331..96202935-chr8:96212671..96215830,3	K562	blood:
9	chr21:41758888..41761339-chr8:96214084..96215888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000253351	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10097310	0.98[ASN][1000 genomes]
rs2439636	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6995298	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:96208600-96216400	Weak transcription	Gastric	stomach
3	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
4	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
5	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:96212400-96214200	Enhancers	HMEC	breast
8	chr8:96212400-96214600	Enhancers	K562	blood
9	chr8:96212400-96217000	Enhancers	Fetal Thymus	thymus
10	chr8:96212600-96214200	Enhancers	NHEK	skin
11	chr8:96212800-96214400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:96212800-96215600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:96213000-96215200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:96213000-96216200	Weak transcription	Pancreas	Pancrea
15	chr8:96213200-96214800	Weak transcription	Primary B cells from cord blood	blood
16	chr8:96213600-96214600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:96213800-96215200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:96213800-96215800	Enhancers	Thymus	Thymus
19	chr8:96214000-96214200	Enhancers	Right Atrium	heart
20	chr8:96214000-96214600	Enhancers	Placenta	Placenta
21	chr8:96214000-96217000	Enhancers	HepG2	liver

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