Variant report

Variant	rs8051758
Chromosome Location	chr16:12400666-12400667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11075057	0.83[EUR][1000 genomes]
rs11075058	0.81[EUR][1000 genomes]
rs11075059	0.84[EUR][1000 genomes]
rs11075061	0.80[EUR][1000 genomes]
rs11075062	0.86[GIH][hapmap]
rs11639640	0.86[EUR][1000 genomes]
rs11644788	0.88[EUR][1000 genomes]
rs11648926	0.81[EUR][1000 genomes]
rs11649626	0.86[EUR][1000 genomes]
rs11861914	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12102608	0.84[EUR][1000 genomes]
rs12148953	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445263	0.84[EUR][1000 genomes]
rs12445569	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12446650	0.84[EUR][1000 genomes]
rs12448443	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13335852	0.88[EUR][1000 genomes]
rs16959318	0.83[EUR][1000 genomes]
rs176717	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17697005	0.85[EUR][1000 genomes]
rs17764604	0.85[EUR][1000 genomes]
rs1995587	0.88[CEU][hapmap]
rs209846	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs209849	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209850	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209851	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs209853	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209855	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209856	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2856766	0.81[EUR][1000 genomes]
rs2856771	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs289673	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs31679	0.85[EUR][1000 genomes]
rs35818743	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs476267	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780417	0.87[EUR][1000 genomes]
rs4780418	0.84[EUR][1000 genomes]
rs4780419	0.81[EUR][1000 genomes]
rs4780422	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4781200	0.85[EUR][1000 genomes]
rs4781201	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4781202	0.87[EUR][1000 genomes]
rs4781207	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4781209	0.86[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs4781214	0.89[GIH][hapmap]
rs544598	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62039994	0.81[EUR][1000 genomes]
rs6498274	0.85[EUR][1000 genomes]
rs6498278	0.81[EUR][1000 genomes]
rs6498279	0.81[EUR][1000 genomes]
rs7189386	0.84[EUR][1000 genomes]
rs7189945	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7190509	0.86[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs7191442	0.81[EUR][1000 genomes]
rs7192102	0.84[EUR][1000 genomes]
rs7194718	0.87[EUR][1000 genomes]
rs7194981	0.86[EUR][1000 genomes]
rs7195520	0.82[EUR][1000 genomes]
rs7197417	0.88[EUR][1000 genomes]
rs7199556	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7200289	0.91[CEU][hapmap];0.81[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs7204209	0.83[EUR][1000 genomes]
rs7204333	0.82[EUR][1000 genomes]
rs7500910	0.81[EUR][1000 genomes]
rs8046012	0.85[EUR][1000 genomes]
rs8061549	0.86[EUR][1000 genomes]
rs8063991	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868773	0.91[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs869289	0.95[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs905950	0.88[EUR][1000 genomes]
rs9284322	0.84[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs9302469	0.83[EUR][1000 genomes]
rs9630612	0.88[EUR][1000 genomes]
rs9927705	0.82[EUR][1000 genomes]
rs9937220	0.81[EUR][1000 genomes]
rs9939036	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3426602	chr16:12400044-12401097	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
3	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12383200-12407800	Weak transcription	Gastric	stomach
6	chr16:12384400-12409000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12386400-12401600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:12388600-12408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:12395000-12403200	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:12395000-12409200	Weak transcription	Liver	Liver
12	chr16:12395400-12401800	Weak transcription	Lung	lung
13	chr16:12395400-12401800	Weak transcription	Spleen	Spleen
14	chr16:12395400-12408000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:12395400-12413800	Weak transcription	Left Ventricle	heart
16	chr16:12395600-12401000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:12395600-12405200	Weak transcription	Esophagus	oesophagus
18	chr16:12395600-12405200	Weak transcription	Right Ventricle	heart
19	chr16:12395600-12408200	Weak transcription	Pancreas	Pancrea
20	chr16:12395600-12409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:12395600-12417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:12396000-12405200	Weak transcription	Adipose Nuclei	Adipose
23	chr16:12396000-12414800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:12396200-12414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12396800-12401200	Weak transcription	Primary B cells from cord blood	blood
26	chr16:12396800-12416400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:12397200-12407400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr16:12397600-12401200	Enhancers	Brain Germinal Matrix	brain
29	chr16:12397800-12408200	Weak transcription	GM12878-XiMat	blood
30	chr16:12398000-12405200	Weak transcription	Ovary	ovary
31	chr16:12398200-12403600	Weak transcription	Primary T cells from cord blood	blood
32	chr16:12398400-12400800	Enhancers	Fetal Brain Male	brain
33	chr16:12399000-12400800	Enhancers	Fetal Brain Female	brain
34	chr16:12399400-12407200	Weak transcription	HepG2	liver
35	chr16:12399600-12407800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:12399800-12400800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:12399800-12408000	Weak transcription	NHEK	skin
38	chr16:12399800-12408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:12400000-12400800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:12400200-12401600	Weak transcription	Fetal Stomach	stomach
41	chr16:12400600-12402200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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