Variant report

Variant	rs802713
Chromosome Location	chr6:128246717-128246718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1000066	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs1089649	0.94[EUR][1000 genomes]
rs1089651	0.95[EUR][1000 genomes]
rs1543373	0.87[ASN][1000 genomes]
rs156062	1.00[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs156063	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs156064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs166581	0.89[EUR][1000 genomes]
rs17055105	0.95[CHB][hapmap]
rs17055123	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs198523	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs198524	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs270022	0.88[EUR][1000 genomes]
rs404528	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs413612	0.88[EUR][1000 genomes]
rs428016	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4895827	0.86[ASN][1000 genomes]
rs4897235	0.90[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs61234808	0.83[ASN][1000 genomes]
rs699416	1.00[CEU][hapmap];0.80[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs699417	0.96[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs699418	0.94[EUR][1000 genomes]
rs699419	0.94[EUR][1000 genomes]
rs723651	0.84[ASN][1000 genomes]
rs802704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs802708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs802709	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs802712	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs802715	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs802716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs802752	0.92[EUR][1000 genomes]
rs802753	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs802755	0.97[EUR][1000 genomes]
rs802756	0.93[EUR][1000 genomes]
rs9375538	0.90[CHB][hapmap]
rs9375539	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs9385443	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9385444	0.85[ASN][1000 genomes]
rs9388600	0.94[CHB][hapmap]
rs9388602	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs9388607	0.85[ASN][1000 genomes]
rs9398858	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs9398859	1.00[CHB][hapmap];0.83[ASN][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	esv1849854	chr6:128143774-128287313	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs802713	THEMIS	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128240400-128246800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:128241400-128246800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:128243800-128246800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:128244000-128246800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:128244200-128246800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:128245600-128246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:128246000-128253800	Weak transcription	Thymus	Thymus
8	chr6:128246000-128260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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