Variant report

Variant	rs73680954
Chromosome Location	chr7:12395511-12395512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
2	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
3	chr7:12363684..12366465-chr7:12393124..12396040,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs55664102	1.00[AMR][1000 genomes]
rs55690557	1.00[AMR][1000 genomes]
rs55717500	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802346	1.00[AMR][1000 genomes]
rs56038003	1.00[AMR][1000 genomes]
rs58430103	1.00[AMR][1000 genomes]
rs59138526	1.00[AMR][1000 genomes]
rs60783223	1.00[AMR][1000 genomes]
rs60964090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61394799	1.00[AMR][1000 genomes]
rs61559614	1.00[AMR][1000 genomes]
rs61737650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959148	1.00[AMR][1000 genomes]
rs6959441	1.00[AMR][1000 genomes]
rs6959444	1.00[AMR][1000 genomes]
rs6977409	0.82[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677587	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677590	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677594	1.00[AMR][1000 genomes]
rs73677598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678123	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678126	1.00[AMR][1000 genomes]
rs73679917	0.84[AFR][1000 genomes]
rs73679918	1.00[AMR][1000 genomes]
rs73679941	1.00[AMR][1000 genomes]
rs73679943	1.00[AMR][1000 genomes]
rs73679945	1.00[AMR][1000 genomes]
rs73679947	1.00[AMR][1000 genomes]
rs73679948	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	0.82[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs73679968	1.00[AMR][1000 genomes]
rs73679969	1.00[AMR][1000 genomes]
rs73679970	1.00[AMR][1000 genomes]
rs73679972	1.00[AMR][1000 genomes]
rs73679973	1.00[AMR][1000 genomes]
rs73679976	1.00[AMR][1000 genomes]
rs73680913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680919	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680924	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792103	1.00[AMR][1000 genomes]
rs7810598	1.00[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	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
18	nsv470044	chr7:12392897-12434771	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 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	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:12392400-12395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:12392800-12395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:12393000-12401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:12393000-12406000	Strong transcription	K562	blood
14	chr7:12393400-12401000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:12393400-12401200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:12394000-12408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:12395200-12397600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:12395400-12402400	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links