Variant report

Variant	rs17048395
Chromosome Location	chr2:57029514-57029515
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10175703	1.00[EUR][1000 genomes]
rs10175921	1.00[EUR][1000 genomes]
rs10182642	1.00[EUR][1000 genomes]
rs10183578	0.86[EUR][1000 genomes]
rs10189352	0.86[EUR][1000 genomes]
rs10193478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200459	0.86[EUR][1000 genomes]
rs10202272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208734	1.00[EUR][1000 genomes]
rs11125648	1.00[EUR][1000 genomes]
rs11125659	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11885280	1.00[EUR][1000 genomes]
rs11885371	1.00[EUR][1000 genomes]
rs11889432	1.00[EUR][1000 genomes]
rs11889483	1.00[EUR][1000 genomes]
rs11893528	1.00[EUR][1000 genomes]
rs11894249	1.00[EUR][1000 genomes]
rs11895018	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11897725	1.00[EUR][1000 genomes]
rs11900216	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11902041	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12105442	1.00[EUR][1000 genomes]
rs12465575	1.00[EUR][1000 genomes]
rs12472267	1.00[EUR][1000 genomes]
rs12477721	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387012	1.00[EUR][1000 genomes]
rs13387189	0.93[ASN][1000 genomes]
rs13392437	0.86[EUR][1000 genomes]
rs13400486	0.86[EUR][1000 genomes]
rs13411712	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13415063	1.00[EUR][1000 genomes]
rs13419971	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs13423875	1.00[EUR][1000 genomes]
rs1996704	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161028	0.86[EUR][1000 genomes]
rs28501480	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28591144	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28604555	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28682440	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767926	0.86[EUR][1000 genomes]
rs4671294	1.00[EUR][1000 genomes]
rs4672146	1.00[EUR][1000 genomes]
rs4672147	1.00[EUR][1000 genomes]
rs4672148	1.00[EUR][1000 genomes]
rs4672151	0.86[EUR][1000 genomes]
rs4672155	0.86[EUR][1000 genomes]
rs4672156	0.83[EUR][1000 genomes]
rs4672157	0.86[EUR][1000 genomes]
rs4672158	0.86[EUR][1000 genomes]
rs60798964	1.00[EUR][1000 genomes]
rs6729559	1.00[EUR][1000 genomes]
rs6730067	0.86[EUR][1000 genomes]
rs6742211	1.00[EUR][1000 genomes]
rs6758203	1.00[EUR][1000 genomes]
rs73940764	0.86[EUR][1000 genomes]
rs7572849	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7577678	1.00[EUR][1000 genomes]
rs7583523	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309288	0.86[EUR][1000 genomes]
rs9807930	0.86[EUR][1000 genomes]
rs9808085	0.86[EUR][1000 genomes]
rs9808321	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv582060	chr2:56941668-57137622	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1002180	chr2:57019964-57130245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57028400-57029600	Enhancers	Fetal Heart	heart
2	chr2:57028800-57029600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:57029200-57030000	Enhancers	NHDF-Ad	bronchial
4	chr2:57029400-57030200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:57029400-57033200	Weak transcription	NHEK	skin
6	chr2:57029400-57034400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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