Variant report

Variant	rs7999481
Chromosome Location	chr13:53605160-53605161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2185960	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7335883	0.85[CEU][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7991211	0.90[MEX][hapmap];0.81[MKK][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes]
rs8000124	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9527051	0.81[TSI][hapmap];0.82[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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr13:53592200-53610600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr13:53601200-53620000	Weak transcription	Spleen	Spleen
3	chr13:53601400-53617000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:53601600-53605600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:53602600-53610400	Active TSS	Duodenum Mucosa	Duodenum
6	chr13:53603200-53605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:53603200-53607000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr13:53603200-53619000	Weak transcription	Pancreas	Pancrea
9	chr13:53604000-53605800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:53604200-53605600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:53604200-53607600	Weak transcription	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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