Variant report

Variant	rs539315
Chromosome Location	chr1:57664690-57664691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57660035..57661588-chr1:57663099..57665461,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs197106	0.88[GIH][hapmap]
rs197614	0.85[GIH][hapmap]
rs264040	0.91[MEX][hapmap]
rs264041	0.85[GIH][hapmap]
rs476466	0.84[CEU][hapmap];1.00[MEX][hapmap]
rs480836	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483280	0.84[CEU][hapmap]
rs483412	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs498772	0.84[CEU][hapmap]
rs561703	0.87[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs570988	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57657400-57670200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57662800-57665200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57663200-57665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:57663600-57669800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57663800-57664800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:57663800-57665000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:57663800-57665200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:57663800-57665200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:57664000-57664800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:57664000-57665600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:57664000-57665600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:57664000-57665600	Enhancers	Fetal Heart	heart
14	chr1:57664200-57665000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:57664400-57664800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:57664400-57664800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:57664400-57664800	Enhancers	K562	blood
18	chr1:57664400-57665200	Enhancers	Fetal Lung	lung
19	chr1:57664600-57667600	Weak transcription	Fetal Brain Male	brain
20	chr1:57664600-57678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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