Variant report

Variant	rs13405097
Chromosome Location	chr2:52010446-52010447
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10166293	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs10185173	0.98[EUR][1000 genomes]
rs11563140	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686436	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13394332	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs35565303	0.89[EUR][1000 genomes]
rs951189	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009513	chr2:51890060-52821980	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv874079	chr2:51935797-52083566	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874080	chr2:51946163-52068507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581914	chr2:51959258-52074452	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv431047	chr2:51961737-52263543	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv874081	chr2:51975932-52062108	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv874082	chr2:52006583-52038547	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52006800-52011000	Weak transcription	Right Atrium	heart
2	chr2:52009000-52012000	Enhancers	Fetal Heart	heart
3	chr2:52009400-52010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:52009800-52011400	Enhancers	Fetal Brain Male	brain
5	chr2:52010000-52010600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:52010000-52010600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:52010000-52010600	Enhancers	HMEC	breast
8	chr2:52010200-52010600	Enhancers	NHDF-Ad	bronchial
9	chr2:52010200-52010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:52010200-52010800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:52010200-52011000	Enhancers	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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