Variant report

Variant	rs60262907
Chromosome Location	chr5:37790584-37790585
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10054159	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10063743	0.99[ASN][1000 genomes]
rs10069455	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10070843	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071586	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10076344	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10076391	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10473068	0.99[ASN][1000 genomes]
rs10473069	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10941365	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12055296	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2910704	0.83[ASN][1000 genomes]
rs2973041	0.82[ASN][1000 genomes]
rs2973042	0.82[ASN][1000 genomes]
rs60025605	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7730024	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9283747	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9292673	0.99[ASN][1000 genomes]
rs9292674	0.85[AMR][1000 genomes];0.92[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37786000-37790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:37787200-37793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:37787600-37790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:37787600-37791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:37787600-37792800	Weak transcription	NHLF	lung
6	chr5:37787800-37793000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:37788000-37792800	Weak transcription	NH-A	brain
8	chr5:37788000-37793000	Weak transcription	HSMMtube	muscle
9	chr5:37788200-37792600	Weak transcription	NHDF-Ad	bronchial
10	chr5:37788200-37792800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:37788200-37793000	Weak transcription	HMEC	breast
12	chr5:37788400-37792800	Weak transcription	HSMM	muscle
13	chr5:37788800-37792600	Weak transcription	Osteobl	bone
14	chr5:37790000-37790600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:37790000-37790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:37790200-37791000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:37790200-37792800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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