Variant report

Variant	rs12750223
Chromosome Location	chr1:67019819-67019820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10493410	0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11208904	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11208905	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11208909	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs11208915	0.80[JPT][hapmap]
rs1159851	0.82[GIH][hapmap];0.82[JPT][hapmap]
rs1159852	0.82[AMR][1000 genomes]
rs11799970	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs11806387	0.85[AMR][1000 genomes]
rs12041078	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12049347	0.82[MEX][hapmap]
rs12121959	0.82[AMR][1000 genomes]
rs12124690	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12125455	0.82[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs12128429	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs12128496	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs12131909	0.81[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs12725322	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs12731104	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs12731112	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs12741427	0.82[AMR][1000 genomes]
rs12751879	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs1373910	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs1856317	0.86[MKK][hapmap]
rs1975523	0.82[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs2121041	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs2218498	0.82[AMR][1000 genomes]
rs4655496	0.82[AMR][1000 genomes]
rs4655497	0.82[AMR][1000 genomes]
rs4655619	0.83[AMR][1000 genomes]
rs4655621	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs4655622	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs4655623	0.81[AMR][1000 genomes]
rs4655624	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs4655625	0.82[GIH][hapmap];0.82[JPT][hapmap]
rs4655626	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs4655641	0.82[MEX][hapmap]
rs7547570	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs967323	0.85[AMR][1000 genomes];0.87[EUR][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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000400-67022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:67001200-67022000	Weak transcription	Right Ventricle	heart
4	chr1:67007000-67021800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
7	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
8	chr1:67011200-67021800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:67011200-67022000	Weak transcription	Pancreas	Pancrea
10	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
11	chr1:67012400-67021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:67013800-67021200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:67015800-67021600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:67017400-67023800	Enhancers	Fetal Heart	heart
15	chr1:67017600-67020200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67017800-67022400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:67018000-67020200	Enhancers	NHLF	lung
18	chr1:67018000-67023800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:67018200-67023800	Enhancers	Brain Angular Gyrus	brain
20	chr1:67018400-67021400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:67018400-67022000	Weak transcription	NH-A	brain
22	chr1:67018600-67020000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:67018600-67020000	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr1:67018600-67020200	Enhancers	Osteobl	bone
25	chr1:67018800-67022000	Weak transcription	Aorta	Aorta
26	chr1:67018800-67022000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:67018800-67022000	Weak transcription	Left Ventricle	heart
28	chr1:67019000-67021400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:67019000-67021400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:67019000-67021800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:67019000-67022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:67019000-67023600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:67019200-67021800	Weak transcription	Fetal Thymus	thymus
35	chr1:67019200-67023200	Weak transcription	Fetal Lung	lung
36	chr1:67019400-67020200	Genic enhancers	Brain Substantia Nigra	brain
37	chr1:67019400-67020200	Enhancers	HMEC	breast
38	chr1:67019600-67020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:67019600-67020200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:67019600-67021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:67019800-67020000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:67019800-67020000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:67019800-67020000	Enhancers	NHEK	skin
44	chr1:67019800-67021200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:67019800-67021400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:67019800-67024000	Enhancers	NHDF-Ad	bronchial

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