Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1570443	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1570444	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098321	0.85[AFR][1000 genomes]
rs17101443	0.96[AFR][1000 genomes]
rs17101479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17389676	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17390321	0.86[EUR][1000 genomes]
rs17392688	0.86[EUR][1000 genomes]
rs2351911	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650584	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650585	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650588	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650609	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650624	0.86[EUR][1000 genomes]
rs7364565	0.86[EUR][1000 genomes]
rs7365402	0.86[EUR][1000 genomes]
rs7367149	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:78609200-78624600	Weak transcription	Pancreas	Pancrea
3	chr1:78609200-78624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:78611600-78631400	Weak transcription	Liver	Liver
5	chr1:78619800-78624400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:78619800-78624600	Weak transcription	Spleen	Spleen
7	chr1:78620600-78624200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:78621200-78624600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:78621200-78626800	Weak transcription	Right Ventricle	heart
10	chr1:78621400-78625400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:78621800-78623800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:78622000-78623800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:78622000-78623800	Enhancers	Hela-S3	cervix
14	chr1:78622400-78623800	Enhancers	HMEC	breast
15	chr1:78622600-78623800	Enhancers	NHEK	skin
16	chr1:78622600-78624000	Enhancers	Osteobl	bone
17	chr1:78622800-78623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:78623600-78634000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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