Variant report

Variant	rs72862613
Chromosome Location	chr2:31516819-31516820
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13394366	1.00[EUR][1000 genomes]
rs583535	1.00[EUR][1000 genomes]
rs61610727	1.00[EUR][1000 genomes]
rs72862618	1.00[EUR][1000 genomes]
rs72862627	1.00[EUR][1000 genomes]
rs7600936	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv978990	chr2:31513125-31517502	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31511000-31517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:31511200-31519000	Weak transcription	NH-A	brain
4	chr2:31511200-31523200	Weak transcription	HMEC	breast
5	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:31511600-31517200	Weak transcription	Fetal Heart	heart
7	chr2:31511600-31518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:31512800-31518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31516000-31517000	Enhancers	Esophagus	oesophagus
11	chr2:31516200-31521000	Enhancers	Right Ventricle	heart
12	chr2:31516200-31521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:31516400-31518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:31516400-31521000	Enhancers	Aorta	Aorta
15	chr2:31516600-31517000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:31516600-31519200	Weak transcription	Lung	lung
17	chr2:31516800-31517200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:31516800-31517400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:31516800-31517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:31516800-31517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:31516800-31517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:31516800-31517800	Enhancers	NHEK	skin
23	chr2:31516800-31518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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