Variant report

Variant	rs1963647
Chromosome Location	chr7:103444030-103444031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103442619..103446141-chr7:103451934..103454148,3	K562	blood:
2	chr7:103422935..103424556-chr7:103443024..103444916,2	K562	blood:
3	chr7:103416823..103418465-chr7:103442836..103444538,2	K562	blood:
4	chr7:103442038..103446172-chr7:103446880..103450108,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10487171	0.84[CHB][hapmap];0.82[CHD][hapmap];0.82[TSI][hapmap]
rs10953393	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11973815	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11974819	0.85[CHB][hapmap]
rs12531131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1404431	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155576	0.85[CHB][hapmap]
rs2214943	0.85[CHB][hapmap];0.85[CHD][hapmap];0.82[TSI][hapmap]
rs2237636	0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap]
rs262375	0.86[MEX][hapmap]
rs3819484	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3819489	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.88[ASN][1000 genomes]
rs3847070	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4140848	0.84[CHB][hapmap]
rs4729931	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4729932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58420913	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60403171	0.84[ASN][1000 genomes]
rs61124913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67342215	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67399010	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67649823	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73180133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73412894	0.87[ASN][1000 genomes]
rs745540	0.88[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	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1843940	chr7:103421702-103590285	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1963647	ATXN7L1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103437000-103446000	Weak transcription	HepG2	liver
2	chr7:103439000-103444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:103440400-103449400	Weak transcription	K562	blood

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