Variant report

Variant	rs12257900
Chromosome Location	chr10:49443428-49443429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49433973..49437325-chr10:49440787..49445569,4	K562	blood:
2	chr10:49442419..49445275-chr10:49506224..49508061,2	K562	blood:
3	chr10:49438433..49440728-chr10:49443022..49446570,3	K562	blood:
4	chr10:49441878..49444791-chr10:49513078..49515110,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10508899	0.81[CEU][hapmap]
rs10857549	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10857550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11101266	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11101269	1.00[CHB][hapmap]
rs11594677	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12250185	0.92[ASN][1000 genomes]
rs12256625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17697438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17697510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17697560	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17697566	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17697885	1.00[CHB][hapmap]
rs17770069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1864345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2047747	1.00[ASN][1000 genomes]
rs2047748	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2141515	1.00[CHB][hapmap]
rs280613	1.00[CHB][hapmap]
rs280614	1.00[CHB][hapmap]
rs280616	1.00[CHB][hapmap]
rs4491171	1.00[JPT][hapmap]
rs4838580	0.92[ASN][1000 genomes]
rs4838581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4838582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs55909384	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537556	1.00[CHB][hapmap]
rs7067673	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7068878	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72792229	1.00[ASN][1000 genomes]
rs72792233	1.00[ASN][1000 genomes]
rs72792239	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792244	0.84[ASN][1000 genomes]
rs72792247	0.84[ASN][1000 genomes]
rs72792249	0.84[ASN][1000 genomes]
rs72792250	0.84[ASN][1000 genomes]
rs733955	1.00[CHB][hapmap]
rs745708	1.00[CHB][hapmap]
rs905184	1.00[CHB][hapmap]
rs9651393	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831864	chr10:49299274-49450299	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
6	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3358226	chr10:49443286-49443697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49441000-49444200	Weak transcription	Fetal Thymus	thymus
2	chr10:49441600-49446800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49442000-49446800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:49442000-49446800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49442000-49455200	Weak transcription	Right Atrium	heart
6	chr10:49442200-49443600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:49442200-49444200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:49442200-49444200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:49443400-49443600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:49443400-49444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:49443400-49444800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:49443400-49444800	Enhancers	Brain Substantia Nigra	brain

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