Variant report

Variant	rs10243593
Chromosome Location	chr7:39972125-39972126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39971961..39975837-chr7:39987778..39990826,3	MCF-7	breast:
2	chr7:39971819..39973979-chr7:39987698..39990592,2	K562	blood:
3	chr7:39961241..39963014-chr7:39971580..39973102,2	MCF-7	breast:
4	chr7:39972038..39974113-chr7:39987608..39989357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1002749	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10232503	0.89[ASN][1000 genomes]
rs10234693	0.81[CEU][hapmap]
rs10246466	0.81[CEU][hapmap]
rs10261984	0.89[ASN][1000 genomes]
rs10272641	0.81[CEU][hapmap]
rs10275761	0.81[CEU][hapmap]
rs1082028	0.81[EUR][1000 genomes]
rs11768464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535281	0.90[ASN][1000 genomes]
rs1257699	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs13438258	0.93[ASN][1000 genomes]
rs13438262	0.93[ASN][1000 genomes]
rs13438324	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2052097	0.81[CEU][hapmap]
rs2329615	0.89[ASN][1000 genomes]
rs28627647	0.90[ASN][1000 genomes]
rs28879668	0.93[ASN][1000 genomes]
rs33999222	0.80[EUR][1000 genomes]
rs34650758	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35915527	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4720344	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6462956	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6956091	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6961040	0.93[ASN][1000 genomes]
rs6963973	0.93[ASN][1000 genomes]
rs6967332	0.90[ASN][1000 genomes]
rs6970469	0.90[ASN][1000 genomes]
rs731847	0.81[CEU][hapmap]
rs773385	0.81[EUR][1000 genomes]
rs773386	0.81[EUR][1000 genomes]
rs773393	0.81[CEU][hapmap]
rs773402	0.81[CEU][hapmap]
rs773403	0.81[EUR][1000 genomes]
rs773414	0.81[EUR][1000 genomes]
rs773424	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7790624	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797041	0.81[CEU][hapmap]
rs7799846	0.80[CEU][hapmap]
rs940272	0.90[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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10243593	C7orf36	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39971600-39973600	Weak transcription	Liver	Liver

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