Variant report

Variant	rs7990847
Chromosome Location	chr13:51879549-51879550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2153512	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7322779	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7330764	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7993686	0.86[GIH][hapmap];0.87[MEX][hapmap];0.80[EUR][1000 genomes]
rs9316533	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596495	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9596497	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596498	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3414654	chr13:51879144-51879555	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51853000-51889600	Weak transcription	Brain Angular Gyrus	brain
2	chr13:51867600-51910800	Weak transcription	Pancreas	Pancrea
3	chr13:51875200-51880000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:51875200-51880000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:51875400-51880400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:51875400-51880400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:51875600-51880400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:51875600-51880400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:51876200-51880600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:51877000-51887800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:51877000-51889200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:51877400-51879600	Weak transcription	Brain Germinal Matrix	brain
13	chr13:51877600-51882800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:51877600-51886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:51877800-51880400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:51877800-51885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:51877800-51890000	Weak transcription	Lung	lung
18	chr13:51878000-51880000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:51878400-51879800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:51878800-51879800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:51879400-51880000	Enhancers	Fetal Intestine Large	intestine

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