Variant report

Variant	rs540058
Chromosome Location	chr7:103359720-103359721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103302444..103304759-chr7:103358804..103361595,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10487164	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12705141	0.91[CEU][hapmap]
rs12705148	0.81[YRI][hapmap]
rs1860686	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2299348	1.00[CEU][hapmap]
rs2299370	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3819450	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487708	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563264	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67423770	0.87[EUR][1000 genomes]
rs67811550	0.87[EUR][1000 genomes]
rs67823578	0.87[EUR][1000 genomes]
rs720078	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs73177970	0.85[EUR][1000 genomes]
rs73177988	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177989	1.00[ASN][1000 genomes]
rs73178001	1.00[ASN][1000 genomes]
rs73712212	1.00[ASN][1000 genomes]
rs997447	1.00[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 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	chr7:103355400-103374800	Weak transcription	HepG2	liver
2	chr7:103358000-103360400	Enhancers	HUVEC	blood vessel
3	chr7:103358200-103360400	Enhancers	NHEK	skin
4	chr7:103358600-103360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:103358800-103360000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:103359000-103359800	Enhancers	Brain Germinal Matrix	brain
7	chr7:103359000-103359800	Enhancers	NH-A	brain
8	chr7:103359000-103359800	Enhancers	NHDF-Ad	bronchial
9	chr7:103359000-103359800	Enhancers	NHLF	lung
10	chr7:103359000-103360200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:103359000-103360400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:103359000-103360400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:103359000-103360400	Enhancers	HMEC	breast
14	chr7:103359400-103363400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:103359600-103360000	Enhancers	K562	blood
16	chr7:103359600-103360200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:103359600-103360200	Flanking Active TSS	Hela-S3	cervix

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