Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160659734..160663014-chr3:160666194..160669867,3	K562	blood:
2	chr3:160666317..160670196-chr3:160671077..160673874,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10433352	0.85[JPT][hapmap]
rs11713093	0.84[JPT][hapmap]
rs11922296	0.95[JPT][hapmap]
rs12485723	0.84[EUR][1000 genomes]
rs12696110	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs1348976	0.95[JPT][hapmap]
rs1374787	0.85[JPT][hapmap]
rs1374789	0.95[JPT][hapmap]
rs1374790	0.95[JPT][hapmap]
rs1447615	0.95[JPT][hapmap]
rs1447622	0.84[JPT][hapmap]
rs1447624	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1562464	0.81[JPT][hapmap]
rs1839014	0.82[EUR][1000 genomes]
rs1839018	0.95[JPT][hapmap]
rs1868104	0.81[CHD][hapmap]
rs1868106	1.00[CEU][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs1868109	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs2028988	0.81[CHD][hapmap]
rs2044571	0.81[JPT][hapmap]
rs4679920	0.81[JPT][hapmap]
rs6441335	0.84[EUR][1000 genomes]
rs6770488	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6776120	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs6796612	0.97[EUR][1000 genomes]
rs6800092	0.96[EUR][1000 genomes]
rs6801330	0.95[JPT][hapmap]
rs7629374	0.84[EUR][1000 genomes]
rs956447	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs964533	0.85[JPT][hapmap]
rs9812507	0.85[JPT][hapmap]
rs9832109	0.85[JPT][hapmap]
rs9857855	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1374795	C3orf57	cis	parietal	SCAN
rs1374795	C3orf57	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160666200-160669000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:160666400-160669400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:160666400-160669600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:160666400-160669600	Weak transcription	Left Ventricle	heart
5	chr3:160666400-160673400	Weak transcription	Right Atrium	heart
6	chr3:160667400-160668600	Enhancers	Pancreas	Pancrea
7	chr3:160667400-160669200	Weak transcription	Fetal Kidney	kidney
8	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:160668000-160668600	Enhancers	Psoas Muscle	Psoas
10	chr3:160668200-160668600	Enhancers	Liver	Liver
11	chr3:160668200-160668600	Enhancers	Gastric	stomach
12	chr3:160668200-160669000	Enhancers	Ovary	ovary
13	chr3:160668200-160670400	Enhancers	Skeletal Muscle Female	skeletal muscle

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