Variant report

Variant	rs6594711
Chromosome Location	chr5:112713680-112713681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10067046	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs10071966	0.81[CEU][hapmap]
rs10072511	0.82[CEU][hapmap]
rs10076501	0.84[CEU][hapmap]
rs1038918	0.81[CEU][hapmap]
rs10900684	0.84[CEU][hapmap]
rs11241200	0.84[CEU][hapmap]
rs11948072	0.87[CEU][hapmap]
rs12659978	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs13153071	0.84[CEU][hapmap]
rs13190054	0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs1517206	0.85[CEU][hapmap]
rs1517208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1517210	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs154039	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs154040	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs164251	0.89[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs164253	0.85[AFR][1000 genomes]
rs171181	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs173903	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820056	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs182987	0.81[AFR][1000 genomes]
rs1838207	0.83[JPT][hapmap];0.84[AMR][1000 genomes]
rs1845290	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs190453	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2416310	0.82[CEU][hapmap]
rs2434664	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2434665	0.85[CEU][hapmap]
rs255856	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs255858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs255863	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs255867	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs255874	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26960	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26983	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs26985	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26987	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27566	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27700	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2910018	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs348927	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs348933	0.81[AFR][1000 genomes]
rs348949	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs348950	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs348953	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36612	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763139	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs3857435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3936062	0.84[CEU][hapmap]
rs406288	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs423089	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4324667	0.88[AMR][1000 genomes]
rs4398627	0.87[CHB][hapmap]
rs4415069	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs459428	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs461034	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs463216	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4639215	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs465898	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs466564	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705812	0.84[CEU][hapmap]
rs4705813	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705830	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs6594700	0.83[CEU][hapmap]
rs675353	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6869097	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6873400	0.84[CEU][hapmap]
rs6875238	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879612	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6881976	0.81[CEU][hapmap];0.94[JPT][hapmap]
rs6894434	0.85[CEU][hapmap]
rs7702120	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7715342	0.85[AMR][1000 genomes]
rs7722276	0.81[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes]
rs7727449	0.94[CHB][hapmap]
rs7735247	0.81[CEU][hapmap]
rs9326895	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs9686772	0.82[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112708000-112713800	Weak transcription	HMEC	breast
4	chr5:112708000-112714000	Weak transcription	NHEK	skin
5	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney
6	chr5:112710600-112714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112711400-112716200	Weak transcription	NH-A	brain
8	chr5:112711600-112714200	Weak transcription	Fetal Stomach	stomach
9	chr5:112711800-112715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:112711800-112716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:112712400-112713800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:112712400-112714000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:112712600-112714000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr5:112712600-112714000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:112712600-112714000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:112712600-112715400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:112712600-112715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:112712800-112713800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:112712800-112714000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:112713000-112713800	Enhancers	Primary T cells from cord blood	blood
21	chr5:112713000-112715400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:112713200-112714800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:112713400-112714000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:112713400-112714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:112713400-112715000	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:112713400-112715000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:112713400-112715200	Enhancers	HUVEC	blood vessel
28	chr5:112713600-112713800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr5:112713600-112713800	Flanking Active TSS	Dnd41	blood
30	chr5:112713600-112714200	Enhancers	Primary B cells from cord blood	blood
31	chr5:112713600-112714400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:112713600-112714800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:112713600-112714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:112713600-112714800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:112713600-112715000	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links