Variant report

Variant	rs4386964
Chromosome Location	chr8:67395905-67395906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10095792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283103	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504393	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11986831	1.00[CHB][hapmap]
rs11987311	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11988213	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11990322	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11990331	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11992252	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11993306	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11993354	1.00[CHB][hapmap]
rs11998194	1.00[CHB][hapmap]
rs16932983	1.00[CHB][hapmap]
rs16932985	1.00[CHB][hapmap]
rs16932996	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16933013	1.00[CHB][hapmap]
rs16933026	1.00[CHB][hapmap]
rs2358000	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2718997	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3808602	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3824258	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4345540	1.00[CHB][hapmap]
rs56001676	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044023	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57394870	0.89[ASN][1000 genomes]
rs59292708	0.89[ASN][1000 genomes]
rs59352083	0.94[ASN][1000 genomes]
rs60423755	0.94[ASN][1000 genomes]
rs61141626	0.94[ASN][1000 genomes]
rs6982202	1.00[CHB][hapmap]
rs6986940	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7003548	1.00[CHB][hapmap]
rs7008740	1.00[CHB][hapmap]
rs73255675	0.89[ASN][1000 genomes]
rs73255676	0.94[ASN][1000 genomes]
rs73257635	0.89[ASN][1000 genomes]
rs73257637	0.94[ASN][1000 genomes]
rs73257641	0.94[ASN][1000 genomes]
rs73257643	0.94[ASN][1000 genomes]
rs73257644	0.94[ASN][1000 genomes]
rs73257646	0.94[ASN][1000 genomes]
rs73257648	0.94[ASN][1000 genomes]
rs73257650	0.94[ASN][1000 genomes]
rs73257661	0.84[ASN][1000 genomes]
rs7840192	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs957655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4386964	RRS1	cis	parietal	SCAN
rs4386964	ADHFE1	cis	parietal	SCAN
rs4386964	PRDM14	cis	parietal	SCAN
rs4386964	ARFGEF1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
2	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
3	chr8:67387400-67406400	Weak transcription	Liver	Liver
4	chr8:67393600-67396000	Weak transcription	HSMM	muscle
5	chr8:67395000-67396000	Enhancers	Primary B cells from cord blood	blood
6	chr8:67395000-67403800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:67395200-67396000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67395200-67396200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:67395200-67396200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:67395200-67396200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:67395200-67396200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:67395200-67396400	Enhancers	NHLF	lung
13	chr8:67395400-67396200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:67395400-67396200	Enhancers	NHDF-Ad	bronchial
15	chr8:67395400-67397600	Enhancers	GM12878-XiMat	blood
16	chr8:67395600-67396200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:67395600-67396200	Enhancers	NHEK	skin
18	chr8:67395600-67396800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:67395600-67397200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:67395600-67397400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:67395800-67396000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:67395800-67396000	Enhancers	Psoas Muscle	Psoas
23	chr8:67395800-67396200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:67395800-67396200	Enhancers	HMEC	breast
25	chr8:67395800-67396200	Enhancers	Osteobl	bone
26	chr8:67395800-67398400	Weak transcription	Spleen	Spleen

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