Variant report

Variant	rs4957419
Chromosome Location	chr5:41761671-41761672
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	chr5:41755998..41758504-chr5:41761054..41764020,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap]
rs10059424	1.00[JPT][hapmap]
rs10060170	1.00[JPT][hapmap]
rs10062703	1.00[JPT][hapmap]
rs10064298	1.00[JPT][hapmap]
rs10064380	1.00[JPT][hapmap]
rs10069638	1.00[JPT][hapmap]
rs1006996	1.00[JPT][hapmap]
rs10070201	1.00[JPT][hapmap]
rs10075064	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap]
rs1035486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10472357	1.00[JPT][hapmap]
rs10941557	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap]
rs11738517	0.93[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11740524	0.86[ASN][1000 genomes]
rs11740946	1.00[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11744623	0.86[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13163137	1.00[ASN][1000 genomes]
rs13360001	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1355089	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1494392	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1508816	1.00[JPT][hapmap]
rs1533014	0.86[ASN][1000 genomes]
rs1582539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871938	1.00[AMR][1000 genomes]
rs16871940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16871972	0.86[ASN][1000 genomes]
rs17739462	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17847285	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1833818	0.94[AMR][1000 genomes]
rs1876654	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2231910	1.00[JPT][hapmap]
rs2329815	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap]
rs277416	1.00[JPT][hapmap]
rs316760	1.00[ASN][1000 genomes]
rs33967331	1.00[ASN][1000 genomes]
rs34339137	0.86[ASN][1000 genomes]
rs34663371	0.86[ASN][1000 genomes]
rs35077044	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35154057	0.86[ASN][1000 genomes]
rs35613904	0.86[ASN][1000 genomes]
rs3863161	0.82[AMR][1000 genomes]
rs3863162	0.82[AMR][1000 genomes]
rs3863163	0.82[AMR][1000 genomes]
rs4050986	0.86[ASN][1000 genomes]
rs4245982	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap]
rs4957160	0.97[AMR][1000 genomes]
rs4957161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957171	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4957172	1.00[AMR][1000 genomes]
rs4957173	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4957174	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4957175	1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs4957176	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes]
rs4957177	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs4957403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957421	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957422	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957423	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957424	0.86[ASN][1000 genomes]
rs4957425	1.00[AMR][1000 genomes]
rs4957428	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957429	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957430	0.86[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4957432	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4957433	0.94[AMR][1000 genomes]
rs4957434	1.00[JPT][hapmap]
rs4957435	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs4957436	1.00[JPT][hapmap]
rs4957437	1.00[JPT][hapmap]
rs4957438	1.00[JPT][hapmap]
rs4957439	0.88[AMR][1000 genomes]
rs6451581	1.00[ASN][1000 genomes]
rs6451582	1.00[JPT][hapmap]
rs66820325	0.86[ASN][1000 genomes]
rs67114999	0.86[ASN][1000 genomes]
rs6869822	0.91[AMR][1000 genomes]
rs6881873	0.86[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs7712911	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7728482	1.00[JPT][hapmap]
rs7729014	0.86[ASN][1000 genomes]
rs7733096	0.86[ASN][1000 genomes]
rs9292825	0.80[ASN][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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41728600-41763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:41730200-41764000	Weak transcription	Spleen	Spleen
3	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
4	chr5:41735600-41763200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:41735600-41763400	Weak transcription	Fetal Brain Male	brain
6	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:41736200-41763400	Weak transcription	Psoas Muscle	Psoas
8	chr5:41736800-41763000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:41737800-41763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:41739200-41763200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:41739400-41770800	Weak transcription	Pancreas	Pancrea
12	chr5:41739400-41788800	Weak transcription	Gastric	stomach
13	chr5:41739400-41790200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:41739600-41764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:41739600-41764600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:41739600-41765200	Weak transcription	Lung	lung
18	chr5:41739600-41768000	Weak transcription	Right Ventricle	heart
19	chr5:41739600-41786400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:41739600-41794800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:41739800-41770400	Weak transcription	Fetal Stomach	stomach
22	chr5:41747000-41762800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:41747000-41784000	Weak transcription	K562	blood
24	chr5:41747400-41777600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:41747800-41762800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:41747800-41766400	Weak transcription	Brain Angular Gyrus	brain
27	chr5:41748200-41762000	Weak transcription	Fetal Lung	lung
28	chr5:41748200-41762200	Weak transcription	NHLF	lung
29	chr5:41748200-41762600	Weak transcription	NH-A	brain
30	chr5:41748200-41776000	Weak transcription	HUVEC	blood vessel
31	chr5:41748400-41762800	Weak transcription	Fetal Heart	heart
32	chr5:41748800-41763600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:41748800-41768000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:41749200-41762400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:41749200-41762800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:41749200-41763200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:41749200-41764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:41749200-41786000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:41749200-41797800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:41751800-41762600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:41751800-41764600	Weak transcription	Fetal Brain Female	brain
42	chr5:41752000-41789400	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:41752400-41762000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:41752400-41762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:41752400-41762600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:41753800-41763400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:41755000-41762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:41755000-41763000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:41755000-41763200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:41755400-41764000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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