Variant report

Variant	rs73915497
Chromosome Location	chr2:11848516-11848517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11846985..11850367-chr2:11854727..11856903,3	K562	blood:
2	chr2:11846487..11849163-chr2:11861394..11864820,3	K562	blood:

Variant related genes	Relation type
ENSG00000203643	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56037558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56266446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56958924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57097271	0.98[AFR][1000 genomes]
rs57245099	0.86[AFR][1000 genomes]
rs58429439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61153226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915500	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11841600-11850000	Weak transcription	Brain Substantia Nigra	brain
2	chr2:11841600-11850000	Weak transcription	Ovary	ovary
3	chr2:11841600-11850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:11841800-11850200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:11844200-11854200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:11844600-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:11844600-11849800	Weak transcription	NH-A	brain
8	chr2:11844600-11849800	Weak transcription	NHLF	lung
9	chr2:11844600-11856400	Weak transcription	Psoas Muscle	Psoas
10	chr2:11844800-11850000	Weak transcription	NHDF-Ad	bronchial
11	chr2:11845000-11849800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:11845800-11851000	Weak transcription	Liver	Liver
13	chr2:11847600-11848800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:11847800-11848600	Enhancers	Placenta	Placenta
15	chr2:11847800-11850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:11847800-11850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:11848000-11848800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:11848000-11848800	Enhancers	Pancreas	Pancrea
19	chr2:11848200-11848800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:11848200-11848800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:11848200-11848800	Enhancers	Osteobl	bone
22	chr2:11848200-11851000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:11848400-11848600	Enhancers	Adipose Nuclei	Adipose
24	chr2:11848400-11848600	Enhancers	Fetal Lung	lung

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