Variant report

Variant	rs8182116
Chromosome Location	chr16:81878481-81878482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81868079..81870881-chr16:81878026..81880776,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12445050	0.82[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13334290	0.90[ASN][1000 genomes]
rs13334419	1.00[JPT][hapmap]
rs13335344	0.90[ASN][1000 genomes]
rs13338037	0.90[ASN][1000 genomes]
rs13339274	0.90[ASN][1000 genomes]
rs28734133	0.88[ASN][1000 genomes]
rs4072683	1.00[CEU][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs41309272	0.94[EUR][1000 genomes]
rs4547325	0.83[ASN][1000 genomes]
rs4616280	0.81[ASN][1000 genomes]
rs55829397	0.96[EUR][1000 genomes]
rs55856197	0.95[EUR][1000 genomes]
rs56188311	0.95[EUR][1000 genomes]
rs62044141	0.83[ASN][1000 genomes]
rs62044142	0.86[ASN][1000 genomes]
rs62045701	0.90[ASN][1000 genomes]
rs62045702	0.90[ASN][1000 genomes]
rs62045704	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62045706	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7188868	0.95[EUR][1000 genomes]
rs7193477	0.95[EUR][1000 genomes]
rs7196980	0.90[ASN][1000 genomes]
rs74029252	0.90[ASN][1000 genomes]
rs7500467	0.95[EUR][1000 genomes]
rs8047437	0.83[ASN][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8182116	TAF1C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
3	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:81874400-81879200	Weak transcription	Esophagus	oesophagus
6	chr16:81874400-81879600	Weak transcription	Pancreas	Pancrea
7	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:81876400-81881800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:81876400-81882800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:81876400-81889400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:81876600-81879200	Weak transcription	Lung	lung
12	chr16:81877000-81879600	Weak transcription	Spleen	Spleen
13	chr16:81877000-81889200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:81877200-81879400	Genic enhancers	GM12878-XiMat	blood
15	chr16:81877400-81879600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:81877600-81879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81877800-81890400	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr16:81878200-81879400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr16:81878200-81879600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:81878200-81880000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:81878400-81878800	Genic enhancers	Primary B cells from cord blood	blood
22	chr16:81878400-81879000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr16:81878400-81880000	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links