Variant report

Variant	rs2206366
Chromosome Location	chr1:172916875-172916876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172909514..172913371-chr1:172916147..172919223,3	K562	blood:
2	chr1:172913673..172916975-chr1:172918949..172922757,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489274	0.81[EUR][1000 genomes]
rs10798243	0.81[EUR][1000 genomes]
rs10798244	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10912499	0.82[EUR][1000 genomes]
rs10912501	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912502	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402215	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12409216	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410129	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565596	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12567579	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12739009	1.00[JPT][hapmap]
rs1883475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2051629	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2179425	0.81[EUR][1000 genomes]
rs2187893	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2206363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206364	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2206365	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2422257	1.00[JPT][hapmap]
rs4145469	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs4916285	1.00[JPT][hapmap]
rs4916287	0.85[EUR][1000 genomes]
rs4916288	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4916289	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916290	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6668693	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6674470	0.82[EUR][1000 genomes]
rs6688532	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7517726	0.82[EUR][1000 genomes]
rs7527986	1.00[JPT][hapmap]
rs7539319	1.00[JPT][hapmap]
rs7539951	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926472	0.81[EUR][1000 genomes]
rs9283384	0.82[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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172911200-172917000	Weak transcription	Fetal Stomach	stomach
2	chr1:172911200-172917600	Weak transcription	Fetal Lung	lung
3	chr1:172913600-172919200	Enhancers	HUVEC	blood vessel
4	chr1:172914600-172917800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:172915000-172917000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:172915000-172918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:172915200-172924600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:172915400-172918600	Enhancers	Dnd41	blood
9	chr1:172915600-172917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:172915800-172917000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:172915800-172917000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:172915800-172917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:172915800-172918800	Enhancers	NHDF-Ad	bronchial
14	chr1:172916000-172917000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:172916000-172917000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:172916000-172918600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:172916000-172918600	Enhancers	NH-A	brain
18	chr1:172916000-172918800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:172916000-172918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:172916200-172917400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:172916200-172918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:172916200-172918800	Enhancers	HSMM	muscle
23	chr1:172916200-172919000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:172916400-172918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:172916600-172917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:172916600-172917600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:172916800-172917200	Weak transcription	NHEK	skin
28	chr1:172916800-172918000	Enhancers	HSMMtube	muscle
29	chr1:172916800-172918400	Enhancers	NHLF	lung
30	chr1:172916800-172918400	Enhancers	Osteobl	bone

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