Variant report

Variant	rs10864151
Chromosome Location	chr1:215258602-215258603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10746453	0.81[EUR][1000 genomes]
rs10779636	0.81[CEU][hapmap]
rs10864147	0.81[CEU][hapmap]
rs10864149	0.81[EUR][1000 genomes]
rs11120481	0.85[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11120482	0.88[CEU][hapmap]
rs11120484	0.91[ASN][1000 genomes]
rs11120504	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1157492	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11586565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802959	0.85[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs12028008	0.85[CEU][hapmap]
rs12038773	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12041014	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349674	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1377183	0.81[EUR][1000 genomes]
rs1452636	0.81[EUR][1000 genomes]
rs1901623	0.81[EUR][1000 genomes]
rs2363561	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[ASN][1000 genomes]
rs2363563	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2885816	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs4655271	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4655272	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6540882	0.81[CEU][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	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10864151	KCNH1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215254800-215259000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:215254800-215260000	Active TSS	Fetal Brain Female	brain
3	chr1:215255200-215259000	Active TSS	NHDF-Ad	bronchial
4	chr1:215255800-215258800	Active TSS	NHLF	lung
5	chr1:215257200-215259800	Weak transcription	Gastric	stomach
6	chr1:215257400-215260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:215257800-215259000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:215257800-215260800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:215258400-215261000	Weak transcription	Osteobl	bone
11	chr1:215258400-215265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:215258400-215267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:215258600-215259600	Weak transcription	Fetal Brain Male	brain

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