Variant report

Variant	rs8049750
Chromosome Location	chr16:82083187-82083188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82082499..82084016-chr16:82084295..82086029,2	K562	blood:
2	chr16:82082819..82085630-chr16:82086740..82089181,2	MCF-7	breast:
3	chr16:82081727..82084645-chr16:82085577..82088514,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11150434	1.00[EUR][1000 genomes]
rs11150435	1.00[EUR][1000 genomes]
rs13337293	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16956238	1.00[EUR][1000 genomes]
rs16956244	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956274	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956406	1.00[TSI][hapmap]
rs4435247	1.00[TSI][hapmap]
rs4889446	1.00[TSI][hapmap]
rs60912325	1.00[EUR][1000 genomes]
rs7184155	0.90[AFR][1000 genomes]
rs7195508	1.00[EUR][1000 genomes]
rs7196078	1.00[EUR][1000 genomes]
rs7201121	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7205168	0.87[AFR][1000 genomes]
rs7205968	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7206573	0.89[AFR][1000 genomes]
rs8045494	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8046220	0.83[YRI][hapmap]
rs8046533	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8047385	0.85[YRI][hapmap];0.95[AFR][1000 genomes]
rs8048090	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8049006	0.82[YRI][hapmap];0.97[AFR][1000 genomes]
rs8049423	1.00[EUR][1000 genomes]
rs8049510	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8050327	0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8056343	1.00[EUR][1000 genomes]
rs8058561	1.00[EUR][1000 genomes]
rs8062348	1.00[TSI][hapmap]
rs8063275	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191048	1.00[GIH][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs8191049	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8191050	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191072	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8191077	0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8191080	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191081	1.00[EUR][1000 genomes]
rs8191089	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191167	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9926028	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926211	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9941115	1.00[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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
2	chr16:82074200-82085600	Enhancers	HepG2	liver
3	chr16:82076600-82094800	Enhancers	Fetal Intestine Large	intestine
4	chr16:82077000-82083800	Weak transcription	Lung	lung
5	chr16:82079800-82084200	Weak transcription	Fetal Lung	lung
6	chr16:82080000-82089200	Enhancers	Liver	Liver
7	chr16:82080200-82086400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr16:82080800-82085600	Enhancers	Fetal Intestine Small	intestine
9	chr16:82081000-82083800	Enhancers	Duodenum Mucosa	Duodenum
10	chr16:82082000-82083200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:82082000-82083400	Weak transcription	Pancreas	Pancrea
12	chr16:82082200-82083400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr16:82082400-82084400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr16:82082400-82086600	Enhancers	Stomach Mucosa	stomach
15	chr16:82082600-82083800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:82082800-82083800	Enhancers	Small Intestine	intestine
17	chr16:82082800-82084000	Enhancers	Gastric	stomach
18	chr16:82083000-82083400	Weak transcription	Placenta	Placenta

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