Variant report

Variant	rs2013951
Chromosome Location	chr16:12398311-12398312
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	chr16:12398011..12399512-chr16:12401673..12404265,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11641317	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11861914	0.80[EUR][1000 genomes]
rs158467	0.82[EUR][1000 genomes]
rs16959342	0.80[EUR][1000 genomes]
rs209834	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs209835	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209836	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209839	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209845	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs209850	0.81[AMR][1000 genomes]
rs209853	0.81[AMR][1000 genomes]
rs209854	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2856766	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2856770	0.84[ASN][1000 genomes]
rs2856771	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4781202	0.83[EUR][1000 genomes]
rs4781205	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs512286	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs540972	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544673	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7197417	0.82[EUR][1000 genomes]
rs7200289	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7500910	0.85[ASN][1000 genomes]
rs8051010	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8061549	0.81[EUR][1000 genomes]
rs869289	0.80[EUR][1000 genomes]
rs9635495	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:44 , 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	chr16:12385400-12399200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:12386400-12401600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12388000-12398600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:12388600-12408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:12389800-12398400	Weak transcription	NHEK	skin
13	chr16:12389800-12398800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:12394800-12398400	Weak transcription	Fetal Kidney	kidney
15	chr16:12395000-12400000	Weak transcription	Fetal Stomach	stomach
16	chr16:12395000-12403200	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:12395000-12409200	Weak transcription	Liver	Liver
18	chr16:12395200-12399800	Weak transcription	Brain Substantia Nigra	brain
19	chr16:12395200-12400000	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:12395200-12400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:12395400-12401800	Weak transcription	Lung	lung
22	chr16:12395400-12401800	Weak transcription	Spleen	Spleen
23	chr16:12395400-12408000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:12395400-12413800	Weak transcription	Left Ventricle	heart
25	chr16:12395600-12398800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:12395600-12401000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:12395600-12405200	Weak transcription	Esophagus	oesophagus
28	chr16:12395600-12405200	Weak transcription	Right Ventricle	heart
29	chr16:12395600-12408200	Weak transcription	Pancreas	Pancrea
30	chr16:12395600-12409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12395600-12417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr16:12396000-12405200	Weak transcription	Adipose Nuclei	Adipose
33	chr16:12396000-12414800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:12396200-12414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:12396800-12401200	Weak transcription	Primary B cells from cord blood	blood
36	chr16:12396800-12416400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr16:12397000-12399000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:12397200-12407400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:12397400-12398400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:12397600-12401200	Enhancers	Brain Germinal Matrix	brain
41	chr16:12397800-12408200	Weak transcription	GM12878-XiMat	blood
42	chr16:12398000-12399200	Weak transcription	Fetal Heart	heart
43	chr16:12398000-12405200	Weak transcription	Ovary	ovary
44	chr16:12398200-12403600	Weak transcription	Primary T cells from cord blood	blood

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