Variant report

Variant	rs12539817
Chromosome Location	chr7:71774130-71774131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1015488	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10224695	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10227014	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10227470	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10228688	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10244856	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10248548	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10253915	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10267124	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10277004	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10277561	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10282511	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1034617	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11762676	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11762805	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11767194	0.90[CEU][hapmap]
rs11971116	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11981237	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1232521	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12537060	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17673971	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2023724	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2023725	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2203709	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2203710	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2677274	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2677277	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2677279	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2677281	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28591449	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28733015	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4719222	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs491413	0.95[CEU][hapmap]
rs492481	0.96[CEU][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs495016	0.95[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs496808	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs501430	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs505671	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs512843	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs520564	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs531390	0.96[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs532169	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs534603	0.95[CEU][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs536759	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs538657	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs544861	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs549763	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs562477	0.92[AMR][1000 genomes]
rs62459264	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62464865	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6460710	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67502107	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6947575	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6970677	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73143215	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1033860	chr7:71715105-71778772	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv538944	chr7:71715105-71778772	Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1032591	chr7:71715105-71794258	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv538945	chr7:71715105-71794258	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv470299	chr7:71740458-71815170	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv464556	chr7:71740458-71817899	Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71759600-71790200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71769000-71774400	Enhancers	Thymus	Thymus
3	chr7:71772200-71784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:71772800-71780000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:71773200-71778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:71773600-71775400	Genic enhancers	Fetal Thymus	thymus
7	chr7:71773800-71778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71774000-71782000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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