Variant report

Variant	rs12535294
Chromosome Location	chr7:18818397-18818398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1011446	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs10266741	0.84[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10280633	0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10950704	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs12533274	0.85[JPT][hapmap]
rs12540224	0.94[JPT][hapmap]
rs12540265	0.94[JPT][hapmap]
rs12540872	0.87[JPT][hapmap]
rs12699981	0.82[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13243526	0.85[ASN][1000 genomes]
rs17349342	0.84[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];0.94[YRI][hapmap];0.85[ASN][1000 genomes]
rs1989817	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028012	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2028013	0.83[ASN][1000 genomes]
rs2028014	0.83[ASN][1000 genomes]
rs2028016	0.94[JPT][hapmap]
rs2073962	0.94[JPT][hapmap]
rs2078866	0.84[CHD][hapmap];0.94[JPT][hapmap]
rs2078868	0.81[ASN][1000 genomes]
rs2078869	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157901	0.94[JPT][hapmap]
rs2257696	0.81[ASN][1000 genomes]
rs2519742	0.82[ASN][1000 genomes]
rs2519744	0.82[ASN][1000 genomes]
rs2519745	0.83[ASN][1000 genomes]
rs2519746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520345	0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2520360	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2588595	0.82[ASN][1000 genomes]
rs2588596	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2588597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588599	0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2588600	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2588601	0.83[ASN][1000 genomes]
rs2588602	0.83[ASN][1000 genomes]
rs2588603	0.80[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2588604	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2588605	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2588623	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2588625	0.94[JPT][hapmap]
rs2588627	0.94[JPT][hapmap]
rs3844320	0.81[ASN][1000 genomes]
rs3854289	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3901892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721725	0.80[ASN][1000 genomes]
rs62446605	0.80[ASN][1000 genomes]
rs62446608	0.81[ASN][1000 genomes]
rs6461384	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6951973	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6963568	0.86[CEU][hapmap];0.94[JPT][hapmap]
rs6972607	0.94[JPT][hapmap]
rs7776786	0.81[JPT][hapmap]
rs7779024	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7779555	0.81[ASN][1000 genomes]
rs7783171	0.95[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785216	0.81[ASN][1000 genomes]
rs7798677	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs929196	0.94[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12535294	SP8	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18808200-18823200	Weak transcription	Aorta	Aorta
3	chr7:18810800-18821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:18812400-18826400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:18817400-18818800	Enhancers	HSMMtube	muscle
6	chr7:18817400-18819000	Enhancers	HSMM	muscle
7	chr7:18817600-18818400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:18817600-18818600	Enhancers	Osteobl	bone
9	chr7:18817600-18819000	Enhancers	NH-A	brain
10	chr7:18817800-18818600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:18818000-18818600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:18818000-18818800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:18818000-18819000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:18818000-18819000	Enhancers	NHDF-Ad	bronchial

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