Variant report

Variant	rs4957422
Chromosome Location	chr5:41796427-41796428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:41795930-41796511	MCF10A-Er-Src	breast:	n/a	chr5:41796318-41796326 chr5:41796096-41796108 chr5:41796098-41796106

Variant related genes	Relation type
OXCT1	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10051322	0.93[ASN][1000 genomes]
rs10059424	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10069638	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1006996	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10070201	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1035486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10472357	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10941557	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11738517	0.80[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11740524	1.00[ASN][1000 genomes]
rs11740946	0.86[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11744516	0.87[ASN][1000 genomes]
rs11744623	1.00[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1175227	0.93[ASN][1000 genomes]
rs13163137	0.86[ASN][1000 genomes]
rs13357951	0.93[ASN][1000 genomes]
rs13360001	1.00[JPT][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs1494392	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1508816	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1533014	1.00[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];0.86[ASN][1000 genomes]
rs16871972	1.00[ASN][1000 genomes]
rs17739462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17847285	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1833818	0.94[AMR][1000 genomes]
rs1876654	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2113053	0.93[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2231917	0.93[ASN][1000 genomes]
rs2329815	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs277406	0.93[ASN][1000 genomes]
rs277407	0.93[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs277416	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs316760	0.86[ASN][1000 genomes]
rs33967331	0.86[ASN][1000 genomes]
rs34339137	1.00[ASN][1000 genomes]
rs34663371	1.00[ASN][1000 genomes]
rs35077044	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35154057	1.00[ASN][1000 genomes]
rs35252930	0.87[ASN][1000 genomes]
rs35613904	1.00[ASN][1000 genomes]
rs3863161	0.82[AMR][1000 genomes]
rs3863162	0.82[AMR][1000 genomes]
rs3863163	0.82[AMR][1000 genomes]
rs4050986	1.00[ASN][1000 genomes]
rs4245982	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4289604	0.93[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
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];0.93[ASN][1000 genomes]
rs4957172	1.00[AMR][1000 genomes]
rs4957173	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957176	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957177	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957178	0.93[ASN][1000 genomes]
rs4957180	0.93[ASN][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]
rs4957419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957421	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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];1.00[ASN][1000 genomes]
rs4957424	1.00[ASN][1000 genomes]
rs4957425	1.00[AMR][1000 genomes]
rs4957428	1.00[AMR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs4957430	1.00[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957433	0.94[AMR][1000 genomes];0.93[ASN][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];0.93[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957438	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957439	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs6451581	0.86[ASN][1000 genomes]
rs6451582	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs66820325	1.00[ASN][1000 genomes]
rs67114999	1.00[ASN][1000 genomes]
rs676067	0.93[ASN][1000 genomes]
rs6869822	0.91[AMR][1000 genomes]
rs6881873	1.00[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746983	0.93[ASN][1000 genomes]
rs72746996	0.93[ASN][1000 genomes]
rs7712911	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7728482	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7729014	1.00[ASN][1000 genomes]
rs7733096	1.00[ASN][1000 genomes]
rs9292825	0.93[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	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
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 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	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
2	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:41749200-41797800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:41756200-41813800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:41759800-41800400	Weak transcription	Esophagus	oesophagus
7	chr5:41761200-41798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:41761600-41804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:41762000-41799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:41776000-41798200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:41780000-41800200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:41785800-41800000	Weak transcription	Fetal Brain Male	brain
14	chr5:41788600-41800000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:41789600-41808200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:41790200-41801400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:41790200-41801600	Strong transcription	Primary T cells from cord blood	blood
18	chr5:41790400-41814000	Weak transcription	Psoas Muscle	Psoas
19	chr5:41791000-41801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:41791600-41807600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:41792200-41801000	Strong transcription	Primary B cells from cord blood	blood
22	chr5:41792200-41801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:41792400-41796800	Strong transcription	Dnd41	blood
24	chr5:41792400-41799000	Strong transcription	Fetal Thymus	thymus
25	chr5:41792600-41798800	Strong transcription	GM12878-XiMat	blood
26	chr5:41792600-41800400	Weak transcription	Gastric	stomach
27	chr5:41792800-41796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:41792800-41796600	Enhancers	NHDF-Ad	bronchial
29	chr5:41793000-41796600	Enhancers	NHLF	lung
30	chr5:41793000-41800200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:41793200-41796600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:41793200-41796600	Enhancers	Fetal Heart	heart
33	chr5:41793200-41797200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:41793200-41797200	Enhancers	NHEK	skin
35	chr5:41793200-41797200	Enhancers	Osteobl	bone
36	chr5:41793400-41800400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:41793400-41801200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:41793400-41810400	Weak transcription	Spleen	Spleen
39	chr5:41793600-41796600	Enhancers	HMEC	breast
40	chr5:41794400-41796600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:41794400-41799000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:41794800-41797200	Enhancers	Hela-S3	cervix
43	chr5:41795000-41796600	Enhancers	Ovary	ovary
44	chr5:41795000-41796600	Enhancers	HSMM	muscle
45	chr5:41795000-41796600	Enhancers	HSMMtube	muscle
46	chr5:41795000-41796800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:41795200-41796600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:41795200-41796600	Enhancers	Left Ventricle	heart
49	chr5:41795200-41796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:41795200-41797000	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links