Variant report

Variant	rs7452947
Chromosome Location	chr6:121584370-121584371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10499102	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10499103	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs10499105	0.92[ASW][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap]
rs10499107	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10499108	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10499110	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1273728	0.87[MEX][hapmap]
rs1273739	0.92[ASW][hapmap]
rs1273746	0.87[MEX][hapmap]
rs1273758	0.84[ASW][hapmap]
rs17052877	0.81[JPT][hapmap]
rs17083156	0.81[JPT][hapmap]
rs17083168	0.81[JPT][hapmap]
rs17083211	0.88[CHB][hapmap]
rs17083268	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083302	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083356	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083358	0.89[CHB][hapmap]
rs17083360	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083375	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083385	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083389	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083393	0.84[TSI][hapmap]
rs17083397	0.86[CHB][hapmap]
rs17083405	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083417	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083420	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083421	0.86[CHB][hapmap]
rs17083432	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs2389414	0.84[ASW][hapmap]
rs4144169	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4245508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs4458731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4466276	0.84[ASW][hapmap]
rs4527742	0.92[ASW][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap]
rs4580906	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4585597	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4585603	0.92[ASW][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap]
rs4945683	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4946540	0.84[TSI][hapmap]
rs4946549	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4946555	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4946556	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4946557	0.81[JPT][hapmap]
rs4946560	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4946566	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4946567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs6569179	0.92[ASW][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap]
rs6569194	0.92[ASW][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap]
rs6920459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6930191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6933489	0.92[ASW][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap]
rs811484	0.92[ASW][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap]
rs813068	0.84[ASW][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap]
rs9375015	0.92[ASW][hapmap]
rs9387932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9490138	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2254680	chr6:121584369-121584372	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:121541200-121585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:121567200-121588000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:121570600-121584600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:121573600-121584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:121573800-121584800	Weak transcription	Fetal Intestine Large	intestine
9	chr6:121573800-121586600	Weak transcription	Fetal Lung	lung
10	chr6:121573800-121587000	Weak transcription	Fetal Kidney	kidney
11	chr6:121575000-121606400	Weak transcription	NH-A	brain
12	chr6:121579600-121584800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:121580400-121584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:121580400-121584600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:121581000-121589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:121581200-121588000	Weak transcription	Aorta	Aorta
17	chr6:121581400-121584800	Weak transcription	Fetal Brain Male	brain
18	chr6:121582000-121588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:121582000-121589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:121582200-121588000	Weak transcription	Pancreas	Pancrea
21	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
22	chr6:121582400-121588000	Weak transcription	Placenta	Placenta
23	chr6:121582400-121588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:121582400-121588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:121582400-121590400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:121582600-121584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:121582600-121587800	Weak transcription	Ovary	ovary
28	chr6:121582600-121588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:121582600-121588400	Weak transcription	Gastric	stomach
30	chr6:121582600-121588400	Weak transcription	Left Ventricle	heart
31	chr6:121582800-121587800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:121582800-121587800	Weak transcription	Fetal Intestine Small	intestine
33	chr6:121582800-121588000	Weak transcription	Fetal Stomach	stomach
34	chr6:121583000-121584800	Weak transcription	Primary B cells from cord blood	blood
35	chr6:121583200-121584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:121583800-121585200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:121584200-121584400	ZNF genes & repeats	Dnd41	blood
38	chr6:121584200-121585400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr6:121584200-121588200	ZNF genes & repeats	Primary T cells from cord blood	blood

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