Variant report

Variant	rs10205995
Chromosome Location	chr2:145452810-145452811
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	chr2:145449232..145451837-chr2:145452287..145453911,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10200647	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10203655	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10496966	0.87[ASN][1000 genomes]
rs10928225	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10928226	0.89[ASN][1000 genomes]
rs10928227	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11679253	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883829	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11900456	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11902294	0.95[CEU][hapmap];0.93[CHB][hapmap]
rs12104619	0.82[ASN][1000 genomes]
rs12471698	0.88[ASN][1000 genomes]
rs12478142	0.88[ASN][1000 genomes]
rs12611966	0.86[EUR][1000 genomes]
rs12623452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12991932	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997597	0.92[ASN][1000 genomes]
rs13003467	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13008442	0.87[EUR][1000 genomes]
rs13015001	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]
rs13016064	0.87[ASN][1000 genomes]
rs13032840	0.86[ASN][1000 genomes]
rs13413613	0.87[EUR][1000 genomes]
rs1351734	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1365902	0.85[ASN][1000 genomes]
rs1365905	0.87[ASN][1000 genomes]
rs1384779	0.86[EUR][1000 genomes]
rs1384783	0.88[ASN][1000 genomes]
rs1427509	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1483491	0.92[CHB][hapmap]
rs1529386	0.88[ASN][1000 genomes]
rs1529387	0.88[ASN][1000 genomes]
rs1559961	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559962	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1564697	1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs1896453	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1896454	0.90[ASN][1000 genomes]
rs1994155	0.86[EUR][1000 genomes]
rs2086748	0.87[EUR][1000 genomes]
rs2195114	0.87[ASN][1000 genomes]
rs2195115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381651	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs35099259	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3856364	0.85[ASN][1000 genomes]
rs4458150	0.81[ASN][1000 genomes]
rs4471836	0.88[ASN][1000 genomes]
rs4662231	0.85[EUR][1000 genomes]
rs4662232	0.92[CHB][hapmap]
rs4662393	0.83[ASN][1000 genomes]
rs61440197	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707047	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6728198	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745079	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72991962	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7575857	0.86[EUR][1000 genomes]
rs7579453	0.87[ASN][1000 genomes]
rs7580571	0.88[ASN][1000 genomes]
rs900554	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs958500	0.88[ASN][1000 genomes]
rs958501	0.88[ASN][1000 genomes]
rs980772	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs990847	1.00[CHB][hapmap]

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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10205995	ACVR2A	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145450400-145469200	Weak transcription	Aorta	Aorta
2	chr2:145452200-145453000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:145452400-145457400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:145452800-145457200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links