Variant report

Variant	rs337715
Chromosome Location	chr5:113755797-113755798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10068757	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10519386	1.00[CHB][hapmap]
rs11241277	1.00[ASN][1000 genomes]
rs163207	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs163209	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163306	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17136627	1.00[CHB][hapmap]
rs173991	0.86[ASN][1000 genomes]
rs1813839	1.00[CHB][hapmap]
rs337686	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs337688	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs337694	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs337696	1.00[ASN][1000 genomes]
rs337697	1.00[ASN][1000 genomes]
rs337698	1.00[ASN][1000 genomes]
rs337701	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs337702	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337716	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs36937	0.86[ASN][1000 genomes]
rs36940	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs36941	0.86[ASN][1000 genomes]
rs36943	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs36944	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs36948	1.00[ASN][1000 genomes]
rs402876	1.00[ASN][1000 genomes]
rs4705501	0.86[ASN][1000 genomes]
rs4705669	1.00[CHB][hapmap]
rs4705670	1.00[CHB][hapmap]
rs481248	0.86[ASN][1000 genomes]
rs715730	0.86[GIH][hapmap]

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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs337715	MVD	trans	cerebellum	SCAN
rs337715	CAMK4	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113749600-113756000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:113754000-113757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:113754200-113756000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:113754600-113755800	Weak transcription	Fetal Heart	heart
5	chr5:113754600-113756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:113754800-113755800	Weak transcription	Liver	Liver
7	chr5:113755000-113755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:113755400-113756000	Enhancers	NHDF-Ad	bronchial
9	chr5:113755400-113756200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:113755400-113756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:113755600-113756200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:113755600-113756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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