Variant report

Variant	rs6433312
Chromosome Location	chr2:172614571-172614572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10185633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10196521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10201520	0.81[AMR][1000 genomes]
rs1022358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10930493	0.81[AMR][1000 genomes]
rs10930497	1.00[CEU][hapmap]
rs11677573	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11678892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11692418	1.00[JPT][hapmap]
rs11887208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12479374	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12617265	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12619137	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12692979	1.00[JPT][hapmap]
rs13012103	0.82[AMR][1000 genomes]
rs13017988	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13399316	0.88[JPT][hapmap]
rs1400816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1543168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1607253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes]
rs16859721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17580984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17614989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17615013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1878583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2028672	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2037164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2056202	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2176466	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2292813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2292814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2357064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2357206	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2357208	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs28372952	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs312917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs312920	0.80[AMR][1000 genomes]
rs3770443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3770453	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs3770457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3821092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3821095	0.84[YRI][hapmap]
rs3821096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4324292	0.89[JPT][hapmap]
rs4668417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6433313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6433315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6433317	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6433318	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6711813	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6736159	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6740705	1.00[JPT][hapmap]
rs6753859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6758494	1.00[JPT][hapmap]
rs6760680	1.00[JPT][hapmap];0.97[YRI][hapmap]
rs7340516	1.00[JPT][hapmap]
rs7574090	0.83[AMR][1000 genomes]
rs7580132	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7580232	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7588025	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7594478	1.00[JPT][hapmap]
rs925881	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9287948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs949548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs970948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
3	chr2:172588400-172617000	Weak transcription	Spleen	Spleen
4	chr2:172588400-172617400	Weak transcription	Gastric	stomach
5	chr2:172588400-172619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172588800-172617400	Weak transcription	Pancreas	Pancrea
7	chr2:172589600-172617200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172595400-172619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:172595600-172615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:172596400-172615200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:172602000-172624200	Weak transcription	Esophagus	oesophagus
13	chr2:172602600-172621800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:172603000-172616800	Weak transcription	Right Ventricle	heart
15	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:172603200-172617200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:172603200-172617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:172603200-172617400	Weak transcription	Lung	lung
19	chr2:172603200-172618400	Weak transcription	Stomach Mucosa	stomach
20	chr2:172603400-172617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172603400-172621200	Weak transcription	Small Intestine	intestine
22	chr2:172604400-172617200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:172604400-172617200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:172604400-172618600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:172604400-172641200	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:172605200-172617800	Weak transcription	Dnd41	blood
27	chr2:172605600-172615600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:172605600-172617400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:172605600-172622400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:172605800-172620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:172606000-172617400	Weak transcription	Colonic Mucosa	Colon
32	chr2:172606200-172620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:172606400-172619400	Weak transcription	NHEK	skin
34	chr2:172607400-172616600	Weak transcription	Fetal Heart	heart
35	chr2:172607400-172627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:172607600-172618800	Weak transcription	Fetal Kidney	kidney
37	chr2:172607600-172619200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:172607800-172617400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:172607800-172617400	Weak transcription	Thymus	Thymus
40	chr2:172608000-172615800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:172608200-172617000	Weak transcription	Fetal Stomach	stomach
42	chr2:172608400-172617200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:172608800-172616400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:172608800-172617200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:172608800-172617200	Weak transcription	Aorta	Aorta
46	chr2:172608800-172618400	Weak transcription	GM12878-XiMat	blood
47	chr2:172608800-172619600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:172609000-172618000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:172609000-172622200	Weak transcription	Fetal Brain Male	brain
50	chr2:172609200-172620400	Weak transcription	Primary B cells from peripheral blood	blood

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