Variant report

Variant	rs1375322
Chromosome Location	chr2:187225375-187225376
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	chr2:187224692..187226371-chr2:187226944..187229752,2	K562	blood:

Variant related genes	Relation type
ENSG00000227692	Chromatin interaction

Extended variants
information (count: 39 )
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]
rs13401340	1.00[AFR][1000 genomes];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]
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:8 , 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	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
5	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
6	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
7	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
8	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187214400-187239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187216400-187229400	Weak transcription	Ovary	ovary
3	chr2:187220400-187231800	Weak transcription	GM12878-XiMat	blood
4	chr2:187223600-187230800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:187224200-187229600	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links