Variant report

Variant	rs7062331
Chromosome Location	chr1:171080957-171080958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28363513	0.82[EUR][1000 genomes]
rs28363518	0.82[EUR][1000 genomes]
rs28363524	0.82[EUR][1000 genomes]
rs28363540	0.91[EUR][1000 genomes]
rs28363542	0.91[EUR][1000 genomes]
rs28363552	0.91[EUR][1000 genomes]
rs28363554	1.00[AFR][1000 genomes]
rs28363558	0.91[EUR][1000 genomes]
rs28363562	0.87[EUR][1000 genomes]
rs28363570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28745582	0.82[EUR][1000 genomes]
rs28745589	0.82[EUR][1000 genomes]
rs61997161	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7051095	0.82[EUR][1000 genomes]
rs74122218	1.00[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr1:171077600-171081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:171079000-171081000	Enhancers	NHLF	lung
3	chr1:171079400-171081000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:171079600-171082800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:171079800-171081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171079800-171081000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:171079800-171081200	Enhancers	Adipose Nuclei	Adipose
8	chr1:171079800-171082000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:171080000-171081000	Enhancers	Osteobl	bone
10	chr1:171080000-171081400	Enhancers	Fetal Lung	lung
11	chr1:171080200-171083200	Weak transcription	Aorta	Aorta
12	chr1:171080400-171081000	Weak transcription	Small Intestine	intestine
13	chr1:171080400-171081000	Bivalent Enhancer	NHDF-Ad	bronchial
14	chr1:171080600-171081200	Active TSS	Fetal Brain Male	brain
15	chr1:171080800-171082000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:171080800-171082200	Strong transcription	Liver	Liver
17	chr1:171080800-171083200	Weak transcription	Right Atrium	heart
18	chr1:171080800-171086200	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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