Variant report

Variant	rs12105442
Chromosome Location	chr2:56933914-56933915
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10175703	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175921	1.00[EUR][1000 genomes]
rs10182642	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10183578	0.86[EUR][1000 genomes]
rs10189352	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10193478	1.00[EUR][1000 genomes]
rs10194864	1.00[EUR][1000 genomes]
rs10200459	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10202272	1.00[EUR][1000 genomes]
rs10208734	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11125643	0.86[EUR][1000 genomes]
rs11125648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125659	1.00[EUR][1000 genomes]
rs11885280	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11885371	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11889432	1.00[EUR][1000 genomes]
rs11889483	1.00[EUR][1000 genomes]
rs11893528	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11894249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11895018	1.00[EUR][1000 genomes]
rs11897725	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11900216	1.00[EUR][1000 genomes]
rs11902041	0.86[EUR][1000 genomes]
rs12465575	1.00[EUR][1000 genomes]
rs12472267	1.00[EUR][1000 genomes]
rs12477721	1.00[EUR][1000 genomes]
rs13387012	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13392437	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13400486	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13411712	1.00[EUR][1000 genomes]
rs13415063	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13419971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13423875	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17048395	1.00[EUR][1000 genomes]
rs1996704	1.00[EUR][1000 genomes]
rs2161028	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28501480	1.00[EUR][1000 genomes]
rs28591144	1.00[EUR][1000 genomes]
rs28604555	0.86[EUR][1000 genomes]
rs28682440	1.00[EUR][1000 genomes]
rs34767926	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671294	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672146	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4672147	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4672148	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4672151	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672155	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4672156	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4672157	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4672158	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60798964	1.00[EUR][1000 genomes]
rs6545592	0.87[ASN][1000 genomes]
rs6729559	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6730067	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6742211	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6758203	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73940764	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572849	1.00[EUR][1000 genomes]
rs7577678	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7583523	1.00[EUR][1000 genomes]
rs9309288	0.86[EUR][1000 genomes]
rs9807930	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9808085	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9808265	0.84[ASN][1000 genomes]
rs9808321	0.86[EUR][1000 genomes];0.87[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	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv874179	chr2:56817927-56957466	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874180	chr2:56822558-56957466	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582058	chr2:56892585-57016392	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv582059	chr2:56892585-57175087	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv535727	chr2:56895497-57059359	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1007347	chr2:56904928-57100439	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56932200-56943000	Weak transcription	Psoas Muscle	Psoas
2	chr2:56933000-56935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:56933800-56934800	Weak transcription	NHEK	skin
4	chr2:56933800-56935000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:56933800-56940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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