Variant report

Variant	rs429676
Chromosome Location	chr14:56716382-56716383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56711133..56713005-chr14:56715491..56717445,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1152473	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1152475	0.85[JPT][hapmap]
rs1152476	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs1152481	1.00[EUR][1000 genomes]
rs1152483	1.00[EUR][1000 genomes]
rs1188692	1.00[EUR][1000 genomes]
rs1382973	0.89[ASW][hapmap]
rs1479752	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs171411	0.87[EUR][1000 genomes]
rs1979420	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054492	0.89[ASW][hapmap]
rs242385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs242392	0.84[MEX][hapmap]
rs242393	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs242395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.94[EUR][1000 genomes]
rs242398	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242400	0.84[MEX][hapmap]
rs242406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242410	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242414	0.91[EUR][1000 genomes]
rs242417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs242419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242578	1.00[YRI][hapmap]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242587	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242588	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242592	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242593	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs242594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34175054	1.00[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs402332	0.94[EUR][1000 genomes]
rs4901649	0.84[MEX][hapmap]
rs6573087	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145410	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs753109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs754689	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs754690	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs899603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56693200-56724400	Weak transcription	Gastric	stomach
2	chr14:56694000-56723000	Weak transcription	Lung	lung
3	chr14:56702600-56717600	Weak transcription	Ovary	ovary
4	chr14:56704000-56716800	Weak transcription	Fetal Intestine Small	intestine
5	chr14:56704400-56716600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:56707200-56717400	Weak transcription	Pancreas	Pancrea
7	chr14:56710600-56717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:56711200-56720600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:56711400-56716400	Weak transcription	Fetal Intestine Large	intestine
11	chr14:56711400-56717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:56711400-56718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:56711600-56716600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:56714800-56719400	Strong transcription	Dnd41	blood
16	chr14:56715200-56717800	Strong transcription	Thymus	Thymus
17	chr14:56715400-56716600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:56715400-56717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:56715400-56717800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:56715400-56718600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:56715600-56717800	Strong transcription	Fetal Thymus	thymus
22	chr14:56715600-56720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:56715800-56716600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:56715800-56717800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:56715800-56717800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:56715800-56723200	Weak transcription	Fetal Brain Female	brain
27	chr14:56716000-56716400	Strong transcription	Primary T cells from cord blood	blood
28	chr14:56716000-56716400	Weak transcription	Fetal Brain Male	brain
29	chr14:56716200-56716600	ZNF genes & repeats	Aorta	Aorta
30	chr14:56716200-56718000	Strong transcription	Fetal Stomach	stomach
31	chr14:56716200-56718200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:56716200-56718800	Strong transcription	Primary B cells from cord blood	blood

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