Variant report

Variant	rs844694
Chromosome Location	chr7:71452918-71452919
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	chr7:71452826..71454470-chr7:71455028..71457199,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1017047	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10229928	0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10231062	0.90[CHB][hapmap]
rs10251758	1.00[EUR][1000 genomes]
rs10258507	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10265141	0.89[CHB][hapmap]
rs10273495	0.90[CHB][hapmap]
rs10277893	1.00[EUR][1000 genomes]
rs10280279	0.94[CHB][hapmap]
rs1034806	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1099451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1099452	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1525129	0.88[EUR][1000 genomes]
rs1525130	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs17137604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs17137608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17144164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17144232	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs17144240	0.90[CHB][hapmap]
rs17349645	0.87[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs17428098	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs17428133	0.87[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs28411707	0.88[ASN][1000 genomes]
rs2867564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2867565	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35305736	0.83[ASN][1000 genomes]
rs35720869	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4469348	0.86[EUR][1000 genomes]
rs4719197	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs4719198	0.86[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs4719199	0.86[ASN][1000 genomes]
rs57300068	0.94[EUR][1000 genomes]
rs57375990	0.82[ASN][1000 genomes]
rs58173010	0.82[ASN][1000 genomes]
rs58251256	0.82[ASN][1000 genomes]
rs59254802	0.84[ASN][1000 genomes]
rs59381375	0.81[ASN][1000 genomes]
rs59937976	0.84[ASN][1000 genomes]
rs60790450	0.82[EUR][1000 genomes]
rs6963963	0.86[ASN][1000 genomes]
rs6965309	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs6968406	0.86[ASN][1000 genomes]
rs6980132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72506800	0.80[ASN][1000 genomes]
rs73368146	0.88[EUR][1000 genomes]
rs73368155	0.88[EUR][1000 genomes]
rs73368174	0.81[ASN][1000 genomes]
rs7790072	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844679	0.81[ASN][1000 genomes]
rs844684	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs844685	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs844686	0.81[ASN][1000 genomes]
rs844691	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844698	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844701	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs844702	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844704	0.87[ASN][1000 genomes]
rs844705	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs844707	0.88[ASN][1000 genomes]
rs844708	0.88[ASN][1000 genomes]
rs844710	0.88[ASN][1000 genomes]
rs844711	0.88[ASN][1000 genomes]
rs844734	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs844735	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs844736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844740	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844785	0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs844789	0.88[ASN][1000 genomes]
rs844790	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs844791	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs844792	0.88[ASN][1000 genomes]
rs844793	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs844794	0.87[ASN][1000 genomes]
rs844795	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs844796	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs917209	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1017367	chr7:71339782-71476575	ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv888344	chr7:71406392-71488833	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv888345	chr7:71408360-71485245	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv831023	chr7:71443549-71588033	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71448600-71453000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:71451000-71454400	Enhancers	Fetal Thymus	thymus
3	chr7:71451000-71454400	Enhancers	Thymus	Thymus
4	chr7:71451200-71453200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71451400-71453800	Weak transcription	Pancreas	Pancrea
6	chr7:71452000-71454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:71452200-71454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:71452400-71453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:71452400-71453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:71452400-71453400	Enhancers	Dnd41	blood
11	chr7:71452400-71454000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:71452800-71453200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:71452800-71454000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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