Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43245531..43247866-chr3:43248483..43250491,2	MCF-7	breast:
2	chr3:43247493..43250488-chr3:43252150..43254984,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222331	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10865932	0.82[JPT][hapmap]
rs13060695	0.82[AMR][1000 genomes]
rs13085652	0.82[AMR][1000 genomes]
rs13095863	0.85[JPT][hapmap]
rs13320571	0.82[JPT][hapmap]
rs17075335	0.92[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs17075597	0.82[JPT][hapmap]
rs4404425	0.82[AMR][1000 genomes]
rs4444688	0.82[AMR][1000 genomes]
rs4682685	0.82[JPT][hapmap]
rs4682882	0.82[JPT][hapmap]
rs4683364	0.92[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap]
rs4683366	1.00[JPT][hapmap]
rs6441772	0.82[JPT][hapmap]
rs6781696	0.85[JPT][hapmap]
rs6791641	0.82[JPT][hapmap]
rs6793392	0.85[JPT][hapmap]
rs6803929	0.82[JPT][hapmap]
rs7621298	1.00[JPT][hapmap]
rs9311336	0.82[AMR][1000 genomes]
rs9681394	1.00[JPT][hapmap]
rs9683242	1.00[JPT][hapmap]
rs9820946	0.92[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs9852399	0.82[AMR][1000 genomes]
rs9858012	0.91[CHB][hapmap]
rs9875582	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17075317	SNRK	cis	cerebellum	SCAN
rs17075317	FYCO1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43243600-43252000	Weak transcription	Pancreas	Pancrea
2	chr3:43245000-43258800	Weak transcription	Right Atrium	heart
3	chr3:43247800-43259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:43248200-43253200	Enhancers	Liver	Liver
5	chr3:43248600-43254800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:43249600-43252400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:43249800-43251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:43249800-43252400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:43249800-43254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:43249800-43254400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:43249800-43256000	Weak transcription	Fetal Kidney	kidney
12	chr3:43250000-43254200	Weak transcription	NHEK	skin
13	chr3:43250200-43251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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