Variant report

Variant	rs12624219
Chromosome Location	chr2:141755731-141755732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10496864	0.87[EUR][1000 genomes]
rs11888460	1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap]
rs12471645	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471842	0.82[EUR][1000 genomes]
rs12475929	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12475930	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12619314	0.80[GIH][hapmap]
rs12622921	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12623323	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1525597	0.89[CHB][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.80[ASN][1000 genomes]
rs1525599	0.89[CHB][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs16845015	0.84[MEX][hapmap]
rs16845115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17521615	0.82[ASW][hapmap];0.89[CHB][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2091300	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2380917	0.82[EUR][1000 genomes]
rs2380918	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34168519	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3921277	0.89[EUR][1000 genomes]
rs56925193	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744686	0.89[EUR][1000 genomes]
rs716000	0.80[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7609294	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141754800-141756400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:141755200-141756400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:141755200-141757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:141755400-141756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:141755400-141756600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:141755600-141756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:141755600-141756400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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