Variant report

Variant	rs8046012
Chromosome Location	chr16:12387053-12387054
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	chr16:12384757..12387424-chr16:12410690..12412315,2	MCF-7	breast:
2	chr16:12385748..12388371-chr16:12390061..12392651,3	K562	blood:

Variant related genes	Relation type
ENSG00000238685	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11075057	0.83[EUR][1000 genomes]
rs11075058	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075059	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639640	0.87[EUR][1000 genomes]
rs11644788	0.88[EUR][1000 genomes]
rs11648255	0.81[EUR][1000 genomes]
rs11649626	0.87[EUR][1000 genomes]
rs11861914	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12148953	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12445263	0.92[EUR][1000 genomes]
rs12445569	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12446650	0.92[EUR][1000 genomes]
rs12448443	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13335852	0.88[EUR][1000 genomes]
rs176717	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17697005	0.92[EUR][1000 genomes]
rs17764604	0.92[EUR][1000 genomes]
rs2089251	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209846	0.82[EUR][1000 genomes]
rs209849	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209850	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209851	0.88[EUR][1000 genomes]
rs209853	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209855	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209856	0.89[EUR][1000 genomes]
rs2856766	0.81[EUR][1000 genomes]
rs2856771	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs289673	0.80[EUR][1000 genomes]
rs35818743	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4305040	0.86[EUR][1000 genomes]
rs4780417	0.90[EUR][1000 genomes]
rs4780418	0.92[EUR][1000 genomes]
rs4780419	0.87[EUR][1000 genomes]
rs4780422	0.81[EUR][1000 genomes]
rs4781200	0.92[EUR][1000 genomes]
rs4781201	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4781202	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6498274	0.85[EUR][1000 genomes]
rs7184477	0.82[EUR][1000 genomes]
rs7189386	0.91[EUR][1000 genomes]
rs7189945	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191442	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7192102	0.91[EUR][1000 genomes]
rs7194718	0.87[EUR][1000 genomes]
rs7194981	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7195520	0.83[EUR][1000 genomes]
rs7197417	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7199556	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7200289	0.90[EUR][1000 genomes]
rs7201621	0.82[EUR][1000 genomes]
rs7204209	0.93[EUR][1000 genomes]
rs7204333	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7500910	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8051758	0.85[EUR][1000 genomes]
rs8058876	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8061549	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8063991	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs868773	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869289	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs905950	0.88[EUR][1000 genomes]
rs9630612	0.88[EUR][1000 genomes]
rs9921728	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9927705	0.90[EUR][1000 genomes]
rs9928214	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9930625	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9937220	0.89[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
3	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
4	chr16:12356000-12390200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:12365200-12388000	Weak transcription	Pancreas	Pancrea
7	chr16:12365200-12388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
9	chr16:12372800-12393800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:12373600-12396600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:12374000-12389400	Weak transcription	HSMMtube	muscle
13	chr16:12374000-12397400	Weak transcription	Ovary	ovary
14	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:12378600-12388400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:12379200-12388400	Weak transcription	Right Atrium	heart
17	chr16:12383200-12388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:12383200-12407800	Weak transcription	Gastric	stomach
19	chr16:12383600-12387600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:12383800-12388400	Weak transcription	Left Ventricle	heart
21	chr16:12384000-12388200	Weak transcription	Esophagus	oesophagus
22	chr16:12384000-12390800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:12384000-12394600	Weak transcription	Lung	lung
24	chr16:12384200-12388200	Weak transcription	Placenta	Placenta
25	chr16:12384200-12388400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:12384200-12388400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:12384200-12388400	Weak transcription	HUVEC	blood vessel
28	chr16:12384200-12389000	Weak transcription	NHEK	skin
29	chr16:12384200-12389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:12384200-12394600	Weak transcription	Spleen	Spleen
31	chr16:12384400-12388000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:12384400-12409000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:12385000-12387200	Weak transcription	Primary B cells from cord blood	blood
34	chr16:12385000-12387200	Weak transcription	HepG2	liver
35	chr16:12385000-12388400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:12385000-12394400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:12385000-12394400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr16:12385000-12394600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:12385000-12396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12385200-12394400	Weak transcription	Adipose Nuclei	Adipose
41	chr16:12385400-12399200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:12385800-12389200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:12386200-12387800	Weak transcription	Primary T cells from cord blood	blood
45	chr16:12386400-12401600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:12386600-12387800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr16:12386600-12388400	Weak transcription	GM12878-XiMat	blood
48	chr16:12387000-12387600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:12387000-12388400	Enhancers	K562	blood
50	chr16:12387000-12389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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