Variant report

Variant	rs870357
Chromosome Location	chr1:47912628-47912629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47910388..47913374-chr1:47915734..47917364,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789508	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10890481	0.88[ASN][1000 genomes]
rs12035995	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12036198	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12046016	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12404237	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17103251	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17103253	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814005	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4600090	0.83[GIH][hapmap]
rs4926858	0.92[ASW][hapmap];0.90[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4926865	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4926870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926871	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533894	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6665045	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6666370	0.90[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs6673789	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6674100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6689636	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6690084	0.83[GIH][hapmap]
rs6697911	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72902514	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47911200-47912800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr1:47911800-47913000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
4	chr1:47912000-47912800	Weak transcription	Pancreas	Pancrea
5	chr1:47912000-47913000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
6	chr1:47912200-47912800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:47912600-47913000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:47912600-47913000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:47912600-47913000	Strong transcription	Right Atrium	heart
10	chr1:47912600-47913000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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