Variant report

Variant	rs12564450
Chromosome Location	chr1:214687725-214687726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11120355	0.88[GIH][hapmap]
rs12136882	0.95[ASN][1000 genomes]
rs12564111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12565444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12568895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023023	1.00[AMR][1000 genomes]
rs17023103	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs17023144	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs4639728	1.00[AMR][1000 genomes]
rs57009338	0.95[ASN][1000 genomes]
rs59217266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60222293	1.00[AMR][1000 genomes]
rs6540848	0.87[ASN][1000 genomes]
rs6662947	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6678591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6689199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698434	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6701211	0.96[ASN][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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
3	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
4	chr1:214678200-214687800	Weak transcription	Lung	lung
5	chr1:214679200-214687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:214680800-214687800	Weak transcription	Left Ventricle	heart
7	chr1:214681000-214688000	Weak transcription	Hela-S3	cervix
8	chr1:214681200-214688200	Weak transcription	Fetal Kidney	kidney
9	chr1:214681600-214690200	Weak transcription	Pancreas	Pancrea
10	chr1:214683800-214688000	Weak transcription	Gastric	stomach
11	chr1:214684200-214688000	Weak transcription	HMEC	breast
12	chr1:214684800-214688200	Enhancers	Psoas Muscle	Psoas
13	chr1:214685200-214688400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:214685600-214687800	Weak transcription	Fetal Stomach	stomach
15	chr1:214685600-214688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:214685800-214687800	Weak transcription	Esophagus	oesophagus
17	chr1:214686400-214688000	Enhancers	Osteobl	bone
18	chr1:214686600-214687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:214686600-214687800	Enhancers	NH-A	brain
20	chr1:214686600-214688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:214686600-214690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:214686800-214687800	Enhancers	A549	lung
23	chr1:214686800-214687800	Genic enhancers	NHEK	skin
24	chr1:214686800-214688000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:214686800-214688000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:214686800-214688400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:214686800-214688600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr1:214686800-214688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:214686800-214689000	Enhancers	NHLF	lung
30	chr1:214686800-214690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:214686800-214693000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:214686800-214694400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:214687000-214688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:214687000-214688400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:214687000-214688800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:214687000-214690400	Enhancers	NHDF-Ad	bronchial
37	chr1:214687200-214687800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:214687200-214688000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:214687200-214688200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:214687200-214688400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:214687200-214688400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:214687200-214688400	Enhancers	HSMMtube	muscle
43	chr1:214687200-214688600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:214687200-214689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:214687400-214688000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:214687400-214688000	Enhancers	Ovary	ovary
47	chr1:214687400-214688200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:214687400-214688400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:214687400-214688400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:214687400-214688600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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