Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215228959..215231778-chr1:215232389..215235318,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10746453	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10779636	0.89[CEU][hapmap];0.91[CHB][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs10864147	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes]
rs10864149	0.90[EUR][1000 genomes]
rs10864151	0.85[CEU][hapmap]
rs11120480	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11120481	0.86[ASW][hapmap];0.93[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11120482	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11120504	0.85[CEU][hapmap]
rs1157492	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11802959	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1349674	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs1377183	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452636	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452638	0.84[EUR][1000 genomes]
rs1901623	0.90[EUR][1000 genomes]
rs2363563	0.84[CEU][hapmap]
rs2841615	0.83[MEX][hapmap]
rs4655271	0.85[CEU][hapmap];0.88[YRI][hapmap]
rs4655272	0.81[CEU][hapmap]
rs6540882	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][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	nsv468105	chr1:215167236-215248417	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv549182	chr1:215167236-215248417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12028008	KCNH1	cis	cerebellum	SCAN
rs12028008	ESRRG	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215222800-215242200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:215228000-215233400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:215228000-215237200	Weak transcription	Pancreas	Pancrea
4	chr1:215228600-215231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:215228800-215231600	Enhancers	NHDF-Ad	bronchial
6	chr1:215229000-215233800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:215229200-215237800	Weak transcription	NHEK	skin
8	chr1:215229400-215231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:215229400-215253000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:215230600-215232200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:215231200-215232000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:215231400-215231800	Enhancers	H9 Cell Line	embryonic stem cell

Quick Search: