Variant report

Variant	rs13401340
Chromosome Location	chr2:187210496-187210497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10170824	1.00[AFR][1000 genomes]
rs10176849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10179593	1.00[AMR][1000 genomes]
rs10191818	1.00[AMR][1000 genomes]
rs10196330	1.00[AMR][1000 genomes]
rs10199530	1.00[AMR][1000 genomes]
rs10206373	1.00[AMR][1000 genomes]
rs10209888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395026	1.00[AMR][1000 genomes]
rs13398338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400461	1.00[AMR][1000 genomes]
rs13405038	1.00[AMR][1000 genomes]
rs13405248	1.00[AMR][1000 genomes]
rs13408748	1.00[AMR][1000 genomes]
rs13411841	1.00[AMR][1000 genomes]
rs13411859	1.00[AMR][1000 genomes]
rs13422137	1.00[AMR][1000 genomes]
rs13431396	1.00[AMR][1000 genomes]
rs1375322	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502027	1.00[AMR][1000 genomes]
rs28537983	1.00[AMR][1000 genomes]
rs56182722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56384819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59403412	1.00[AMR][1000 genomes]
rs73979155	0.88[AFR][1000 genomes]
rs73979166	1.00[AMR][1000 genomes]
rs73979176	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979178	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980875	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1014726	chr2:187036909-187213113	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536078	chr2:187036909-187213113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1006411	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536079	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv961744	chr2:187189976-187265519	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv3071	chr2:187208040-187252682	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187188600-187216200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:187192400-187211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187207600-187213800	Weak transcription	Small Intestine	intestine
4	chr2:187207800-187212600	Weak transcription	HepG2	liver
5	chr2:187207800-187214200	Weak transcription	Fetal Stomach	stomach
6	chr2:187208200-187213000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:187208200-187219600	Weak transcription	Right Atrium	heart
8	chr2:187208600-187211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:187209400-187213400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:187209800-187211200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:187210400-187211000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:187210400-187211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:187210400-187211000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:187210400-187211600	Weak transcription	Psoas Muscle	Psoas
15	chr2:187210400-187211800	Weak transcription	Fetal Lung	lung
16	chr2:187210400-187212400	Enhancers	GM12878-XiMat	blood

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