Variant report

Variant	rs2476020
Chromosome Location	chr1:197368281-197368282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197360719..197363248-chr1:197366625..197368316,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10754222	1.00[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs10801604	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10801605	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap]
rs10922213	0.94[CEU][hapmap]
rs10922215	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10922216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10922221	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10922223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11583319	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs11799515	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs11802794	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs12083773	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12128912	1.00[CEU][hapmap]
rs12141028	0.83[CHD][hapmap]
rs17621130	0.87[JPT][hapmap]
rs2494268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2494271	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs2759655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2759662	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2759663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2759665	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2821102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2821108	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2821121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs34241991	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35367258	0.92[EUR][1000 genomes]
rs66619347	0.89[EUR][1000 genomes]
rs7522325	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197361400-197368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:197362400-197368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:197364800-197370800	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links