Variant report

Variant	rs2305931
Chromosome Location	chr1:85594573-85594574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12021868	1.00[AFR][1000 genomes]
rs12022814	1.00[AFR][1000 genomes]
rs12023751	1.00[AFR][1000 genomes]
rs12028707	1.00[AFR][1000 genomes]
rs12034359	1.00[AFR][1000 genomes]
rs12034501	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12036276	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12039804	1.00[AFR][1000 genomes]
rs12040408	1.00[AFR][1000 genomes]
rs12041155	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12043409	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs12045141	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17099217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121656	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17121745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17121978	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410552	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41289039	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56191061	1.00[AFR][1000 genomes]
rs57222060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516443	1.00[AFR][1000 genomes]
rs58068482	1.00[AFR][1000 genomes]
rs58246117	1.00[AFR][1000 genomes]
rs58604582	1.00[AFR][1000 genomes]
rs58659750	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59030463	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59248240	1.00[AFR][1000 genomes]
rs60866399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85565000-85600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85581800-85597800	Weak transcription	Pancreas	Pancrea
3	chr1:85582000-85597400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:85584800-85598000	Weak transcription	Fetal Heart	heart
5	chr1:85592200-85599400	Weak transcription	Fetal Lung	lung
6	chr1:85592400-85597800	Weak transcription	Liver	Liver
7	chr1:85593400-85594800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:85593400-85595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:85594000-85594600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:85594000-85594800	Enhancers	NHDF-Ad	bronchial
11	chr1:85594200-85594600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:85594200-85594800	Weak transcription	Aorta	Aorta
13	chr1:85594200-85594800	Enhancers	NHLF	lung
14	chr1:85594400-85595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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