Variant report

Variant	rs7080813
Chromosome Location	chr10:94116891-94116892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10509644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1057848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10786035	0.83[ASN][1000 genomes]
rs10882031	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs10882037	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs10882049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882052	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11186841	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186852	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186856	0.89[CHD][hapmap]
rs11186859	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186860	0.89[CHB][hapmap]
rs11186866	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186870	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186875	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186879	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186884	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186888	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11186894	0.83[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs11186895	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11186898	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186910	0.83[ASN][1000 genomes]
rs11186912	0.83[ASN][1000 genomes]
rs11186923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs11186926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.86[ASN][1000 genomes]
rs11186931	0.86[ASN][1000 genomes]
rs11186932	0.86[ASN][1000 genomes]
rs11186956	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11186958	0.81[AMR][1000 genomes]
rs12358967	0.86[ASN][1000 genomes]
rs17107517	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1812851	0.83[ASN][1000 genomes]
rs2421831	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs34761542	0.86[ASN][1000 genomes]
rs3781230	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs61875240	0.84[ASN][1000 genomes]
rs61875241	0.86[ASN][1000 genomes]
rs61875243	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7067935	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs7088903	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs746842	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7903767	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7911784	0.80[AMR][1000 genomes]
rs7912223	0.80[AMR][1000 genomes]
rs9787608	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]

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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv508600	chr10:94115025-94231917	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv7492	chr10:94115207-94138463	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7080813	MARCH5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94112400-94117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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