Variant report

Variant	rs996752
Chromosome Location	chr16:82132992-82132993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10514523	0.86[CEU][hapmap];0.90[MEX][hapmap]
rs1119933	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1364287	0.82[CEU][hapmap];0.90[MEX][hapmap]
rs1559428	0.80[AMR][1000 genomes]
rs2966250	0.95[JPT][hapmap]
rs7196807	0.86[CEU][hapmap]
rs723012	0.86[CEU][hapmap];0.95[MEX][hapmap]
rs723013	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs8191243	0.91[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8191248	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs996751	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs996752	NECAB2	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
2	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
3	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:82122200-82134400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:82126000-82141400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:82129600-82133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:82131000-82134000	Strong transcription	Placenta	Placenta
8	chr16:82131600-82133000	Strong transcription	Fetal Stomach	stomach
9	chr16:82131600-82134000	Strong transcription	Fetal Intestine Large	intestine
10	chr16:82131600-82134400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr16:82132000-82133600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82132000-82136600	Weak transcription	Fetal Intestine Small	intestine
13	chr16:82132600-82133600	ZNF genes & repeats	Liver	Liver
14	chr16:82132600-82134200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:82132600-82143400	Weak transcription	HepG2	liver
16	chr16:82132800-82134400	Weak transcription	Rectal Mucosa Donor 31	rectum

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Input of quick search could be:

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

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