Variant report

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10437339	0.82[AFR][1000 genomes]
rs10797052	0.82[ASN][1000 genomes]
rs10797053	0.82[ASN][1000 genomes]
rs11265268	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734169	0.80[ASN][1000 genomes]
rs2808630	0.80[ASN][1000 genomes]
rs2808634	0.82[ASN][1000 genomes]
rs3116650	0.82[ASN][1000 genomes]
rs3116652	0.82[ASN][1000 genomes]
rs3122014	0.82[ASN][1000 genomes]
rs4255379	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420078	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425982	0.82[ASN][1000 genomes]
rs4433388	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656848	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427491	0.82[AFR][1000 genomes]
rs6677719	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876538	0.87[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4656849	MEF2D	cis	parietal	SCAN
rs4656849	TPM3	cis	parietal	SCAN
rs4656849	AQP10	cis	cerebellum	SCAN
rs4656849	PIGM	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159718600-159723600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:159718600-159725200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:159721400-159724000	Enhancers	Fetal Intestine Large	intestine
4	chr1:159722200-159724000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:159722400-159724000	Enhancers	Hela-S3	cervix
6	chr1:159722800-159723800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:159722800-159724000	Enhancers	Fetal Intestine Small	intestine
8	chr1:159722800-159726200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:159723000-159723600	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:159723000-159724600	Enhancers	Placenta	Placenta
11	chr1:159723200-159723800	Enhancers	Left Ventricle	heart
12	chr1:159723200-159723800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:159723200-159723800	Enhancers	Right Atrium	heart
14	chr1:159723200-159723800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:159723200-159723800	Enhancers	Stomach Mucosa	stomach
16	chr1:159723200-159723800	Enhancers	Spleen	Spleen
17	chr1:159723200-159724000	Enhancers	Small Intestine	intestine
18	chr1:159723400-159723800	Enhancers	Fetal Kidney	kidney
19	chr1:159723400-159723800	Enhancers	Lung	lung
20	chr1:159723400-159723800	Enhancers	Pancreas	Pancrea
21	chr1:159723400-159724000	Flanking Active TSS	Liver	Liver
22	chr1:159723400-159725200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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