Variant report

Variant	rs60964090
Chromosome Location	chr7:12392632-12392633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12385242..12386819-chr7:12390082..12392750,2	K562	blood:
2	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
3	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
4	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
5	chr7:12391134..12392692-chr7:12402911..12404517,2	K562	blood:
6	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
7	chr7:12389607..12392285-chr7:12392419..12394302,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs2192831	0.81[AFR][1000 genomes]
rs2192832	0.81[AFR][1000 genomes]
rs2216047	0.81[AFR][1000 genomes]
rs2356164	0.81[AFR][1000 genomes]
rs2356165	0.81[AFR][1000 genomes]
rs55638440	0.81[AFR][1000 genomes]
rs55664102	1.00[AMR][1000 genomes]
rs55690557	1.00[AMR][1000 genomes]
rs55717500	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802346	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55838066	0.81[AFR][1000 genomes]
rs56038003	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56212920	0.81[AFR][1000 genomes]
rs57429766	0.81[AFR][1000 genomes]
rs57550043	0.81[AFR][1000 genomes]
rs58430103	1.00[AMR][1000 genomes]
rs58848722	0.81[AFR][1000 genomes]
rs59138526	1.00[AMR][1000 genomes]
rs60783223	1.00[AMR][1000 genomes]
rs61248493	0.81[AFR][1000 genomes]
rs61275641	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61386156	0.81[AFR][1000 genomes]
rs61394799	1.00[AMR][1000 genomes]
rs61559614	1.00[AMR][1000 genomes]
rs61600346	0.81[AFR][1000 genomes]
rs61737650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460922	0.81[AFR][1000 genomes]
rs6460924	0.81[AFR][1000 genomes]
rs6945246	0.81[AFR][1000 genomes]
rs6945314	0.81[AFR][1000 genomes]
rs6945324	0.81[AFR][1000 genomes]
rs6945330	0.81[AFR][1000 genomes]
rs6951687	0.81[AFR][1000 genomes]
rs6951898	0.81[AFR][1000 genomes]
rs6952189	0.81[AFR][1000 genomes]
rs6959148	1.00[AMR][1000 genomes]
rs6959441	1.00[AMR][1000 genomes]
rs6959444	1.00[AMR][1000 genomes]
rs6965649	0.81[AFR][1000 genomes]
rs6969789	0.81[AFR][1000 genomes]
rs6971503	0.81[AFR][1000 genomes]
rs6977409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979296	1.00[AMR][1000 genomes]
rs6979460	1.00[AMR][1000 genomes]
rs6979661	1.00[AMR][1000 genomes]
rs73677577	1.00[AMR][1000 genomes]
rs73677581	1.00[AMR][1000 genomes]
rs73677583	1.00[AMR][1000 genomes]
rs73677585	1.00[AMR][1000 genomes]
rs73677586	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677587	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677589	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677590	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677594	1.00[AMR][1000 genomes]
rs73677598	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677602	0.81[AFR][1000 genomes]
rs73678103	1.00[AMR][1000 genomes]
rs73678104	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678122	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678123	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678126	1.00[AMR][1000 genomes]
rs73679904	0.81[AFR][1000 genomes]
rs73679907	0.81[AFR][1000 genomes]
rs73679909	0.81[AFR][1000 genomes]
rs73679910	0.81[AFR][1000 genomes]
rs73679914	0.81[AFR][1000 genomes]
rs73679917	0.80[AFR][1000 genomes]
rs73679918	1.00[AMR][1000 genomes]
rs73679922	0.81[AFR][1000 genomes]
rs73679923	0.81[AFR][1000 genomes]
rs73679925	0.81[AFR][1000 genomes]
rs73679929	0.81[AFR][1000 genomes]
rs73679930	0.81[AFR][1000 genomes]
rs73679931	0.81[AFR][1000 genomes]
rs73679932	0.81[AFR][1000 genomes]
rs73679934	0.81[AFR][1000 genomes]
rs73679935	0.81[AFR][1000 genomes]
rs73679938	0.81[AFR][1000 genomes]
rs73679939	0.81[AFR][1000 genomes]
rs73679941	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679943	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679945	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679947	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679948	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679949	1.00[AMR][1000 genomes]
rs73679950	1.00[AMR][1000 genomes]
rs73679951	1.00[AMR][1000 genomes]
rs73679952	1.00[AMR][1000 genomes]
rs73679953	1.00[AMR][1000 genomes]
rs73679957	1.00[AMR][1000 genomes]
rs73679959	1.00[AMR][1000 genomes]
rs73679961	1.00[AMR][1000 genomes]
rs73679962	1.00[AMR][1000 genomes]
rs73679963	1.00[AMR][1000 genomes]
rs73679964	1.00[AMR][1000 genomes]
rs73679965	1.00[AMR][1000 genomes]
rs73679966	1.00[AMR][1000 genomes]
rs73679967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679968	1.00[AMR][1000 genomes]
rs73679969	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679970	1.00[AMR][1000 genomes]
rs73679972	1.00[AMR][1000 genomes]
rs73679973	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680913	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680919	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680924	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680954	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7779965	0.81[AFR][1000 genomes]
rs7792103	1.00[AMR][1000 genomes]
rs7798838	0.81[AFR][1000 genomes]
rs7798867	0.81[AFR][1000 genomes]
rs7810598	1.00[AMR][1000 genomes]
rs7811632	0.81[AFR][1000 genomes]
rs7811810	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv887631	chr7:12360805-12434771	Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv887632	chr7:12360805-12439672	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv464371	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606223	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv887633	chr7:12371801-12439672	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2763622	chr7:12375528-12424583	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv887634	chr7:12385391-12439672	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12363800-12392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:12380600-12393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:12385400-12395200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:12390200-12393000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:12391600-12393000	Genic enhancers	K562	blood
14	chr7:12392200-12393000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:12392400-12393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:12392400-12395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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