Variant report

Variant	rs1462987
Chromosome Location	chr4:22518835-22518836
allele	C/G
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	ZNF143	chr4:22518823-22518888	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:22515945-22519288	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr4:22518703-22518934	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11728370	0.87[CHB][hapmap]
rs12504167	0.87[ASN][1000 genomes]
rs13113896	0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13115916	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13133913	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13135791	0.84[ASN][1000 genomes]
rs1381915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462988	0.82[CHB][hapmap]
rs16872759	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1841822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841823	0.86[CHB][hapmap]
rs2045817	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495025	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4631026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4697018	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4697312	0.85[ASN][1000 genomes]
rs6818676	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114193	0.84[ASN][1000 genomes]
rs73114194	0.84[ASN][1000 genomes]
rs7670164	0.90[ASN][1000 genomes]
rs7692390	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7697048	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs9992412	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3375345	chr4:22516479-22519027	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22517200-22519000	Active TSS	Primary hematopoietic stem cells	blood
2	chr4:22518000-22519600	Weak transcription	Small Intestine	intestine
3	chr4:22518200-22519000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:22518400-22519000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr4:22518400-22519000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr4:22518400-22519000	Enhancers	Pancreas	Pancrea
7	chr4:22518600-22519000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr4:22518600-22519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:22518600-22519000	Enhancers	Colon Smooth Muscle	Colon
10	chr4:22518600-22519000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:22518600-22519800	Enhancers	Fetal Heart	heart
12	chr4:22518600-22523600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:22518800-22519000	Enhancers	Left Ventricle	heart
14	chr4:22518800-22519000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:22518800-22519200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:22518800-22519800	Weak transcription	Psoas Muscle	Psoas
17	chr4:22518800-22520000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:22518800-22523000	Weak transcription	HepG2	liver
19	chr4:22518800-22532600	Weak transcription	Fetal Lung	lung

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