Variant report

Variant	rs12614153
Chromosome Location	chr2:99502489-99502490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12232948	1.00[CHB][hapmap]
rs12611969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12615518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616060	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616866	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12617554	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12619244	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12620812	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12622254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622445	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12623022	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021968	1.00[MEX][hapmap]
rs2871242	0.93[AMR][1000 genomes]
rs35979410	1.00[CHB][hapmap];0.96[AMR][1000 genomes]
rs4851165	0.84[GIH][hapmap]
rs56943554	0.96[AMR][1000 genomes]
rs57480100	0.96[AMR][1000 genomes]
rs61419135	0.96[AMR][1000 genomes]
rs61552487	0.96[AMR][1000 genomes]
rs61604726	0.96[AMR][1000 genomes]
rs6760422	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72958631	0.93[AMR][1000 genomes]
rs7557719	0.89[AMR][1000 genomes]
rs868921	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582518	chr2:99498774-99546355	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr2:99497800-99505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:99500000-99517000	Weak transcription	Gastric	stomach
3	chr2:99502000-99502600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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