Variant report

Variant	rs9650997
Chromosome Location	chr1:179124411-179124412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179122193..179124932-chr1:179127076..179128871,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1004959	0.81[ASN][1000 genomes]
rs10157885	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158768	0.88[ASN][1000 genomes]
rs10913687	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11808217	1.00[JPT][hapmap]
rs12066589	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12071751	1.00[JPT][hapmap]
rs12076957	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12080991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs12083856	1.00[JPT][hapmap]
rs12143004	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16853610	0.87[TSI][hapmap]
rs17277358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17362128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025580	1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2274228	0.85[ASN][1000 genomes]
rs2274230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636281	0.84[AFR][1000 genomes]
rs2793806	0.82[AFR][1000 genomes]
rs2816206	0.81[AFR][1000 genomes]
rs2816209	0.95[YRI][hapmap]
rs2816210	0.82[AFR][1000 genomes]
rs28459842	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28913571	0.80[AFR][1000 genomes]
rs28913879	0.80[AFR][1000 genomes]
rs28914474	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28914485	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3210839	0.81[YRI][hapmap]
rs3753532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766631	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3766633	1.00[JPT][hapmap]
rs3766634	1.00[JPT][hapmap]
rs45499094	0.85[ASN][1000 genomes]
rs55642919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55825882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55827544	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55920203	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55955319	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56382583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58082966	0.90[AFR][1000 genomes]
rs60741626	0.86[ASN][1000 genomes]
rs60826716	0.86[ASN][1000 genomes]
rs6668200	1.00[CEU][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs6669988	0.86[ASN][1000 genomes]
rs6681864	0.84[YRI][hapmap]
rs74131923	0.80[AFR][1000 genomes]
rs7516491	1.00[JPT][hapmap];0.87[TSI][hapmap]
rs9650996	1.00[ASW][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs9650998	0.97[EUR][1000 genomes]
rs9724754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9725888	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9726948	1.00[JPT][hapmap]
rs9730271	0.88[ASN][1000 genomes]
rs9803885	0.85[EUR][1000 genomes];0.86[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	nsv1011462	chr1:179117101-179128290	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1011210	chr1:179117101-179128676	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179112200-179124600	Weak transcription	Left Ventricle	heart
2	chr1:179112400-179133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:179112400-179139000	Weak transcription	K562	blood
4	chr1:179113200-179133000	Weak transcription	Hela-S3	cervix
5	chr1:179116200-179133000	Weak transcription	NHDF-Ad	bronchial
6	chr1:179116400-179133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:179117800-179133000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:179117800-179186000	Weak transcription	Fetal Stomach	stomach
9	chr1:179119000-179135200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:179119600-179133000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:179120200-179133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:179121000-179125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:179121200-179136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:179121600-179125200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:179121600-179125800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:179121800-179126000	Enhancers	HepG2	liver
17	chr1:179121800-179135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:179121800-179138400	Weak transcription	Aorta	Aorta
19	chr1:179122000-179124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:179122000-179135000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:179122000-179139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:179122000-179189400	Weak transcription	Primary B cells from cord blood	blood
23	chr1:179122400-179153000	Weak transcription	Primary T cells from cord blood	blood
24	chr1:179122800-179125600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:179122800-179126800	Weak transcription	Pancreas	Pancrea
26	chr1:179122800-179139000	Weak transcription	Lung	lung
27	chr1:179122800-179141600	Weak transcription	Fetal Intestine Large	intestine
28	chr1:179123000-179128400	Weak transcription	HSMM	muscle
29	chr1:179123000-179133000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:179123400-179133000	Weak transcription	A549	lung
31	chr1:179123400-179136200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:179124200-179124600	Weak transcription	Osteobl	bone
33	chr1:179124200-179125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:179124200-179128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:179124200-179139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:179124400-179124800	Enhancers	Adipose Nuclei	Adipose
37	chr1:179124400-179125400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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