Variant report

Variant	rs8061507
Chromosome Location	chr16:12444139-12444140
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518185	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11075063	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11861545	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102413	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103039	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13336090	0.82[CHB][hapmap];1.00[GIH][hapmap];0.81[EUR][1000 genomes]
rs13336107	0.89[EUR][1000 genomes]
rs13336249	0.81[EUR][1000 genomes]
rs13338250	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168831	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959254	0.96[EUR][1000 genomes]
rs16959258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817646	0.92[EUR][1000 genomes]
rs209837	0.81[EUR][1000 genomes]
rs2432631	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432632	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28469469	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28540294	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28561752	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594525	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28637093	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31678	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35413938	0.85[EUR][1000 genomes]
rs42672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57739236	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58009694	0.81[EUR][1000 genomes]
rs60161095	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60467313	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60642545	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8053492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9922297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924462	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9928921	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929299	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9932620	0.81[EUR][1000 genomes]
rs9932979	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944311	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9944312	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12410200-12464800	Weak transcription	Gastric	stomach
4	chr16:12426800-12447200	Weak transcription	Lung	lung
5	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
6	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
9	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:12436000-12450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:12436200-12450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:12436800-12447000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
17	chr16:12438600-12448200	Weak transcription	Brain Angular Gyrus	brain
18	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:12439000-12450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:12439200-12450000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:12439600-12452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12442200-12444800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr16:12442200-12445000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:12442200-12445200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:12442400-12444200	Enhancers	Brain Cingulate Gyrus	brain
26	chr16:12442400-12444600	Enhancers	Brain Hippocampus Middle	brain
27	chr16:12442400-12445200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:12442600-12450600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr16:12442800-12447000	Weak transcription	Esophagus	oesophagus
30	chr16:12442800-12449800	Weak transcription	Adipose Nuclei	Adipose
31	chr16:12443000-12447200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr16:12443000-12449800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:12443000-12450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:12443200-12445200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:12443200-12447200	Weak transcription	Ovary	ovary
36	chr16:12443200-12447400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:12443200-12447800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:12443200-12449200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:12443200-12452400	Weak transcription	GM12878-XiMat	blood
40	chr16:12443200-12454200	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:12443200-12456600	Weak transcription	Spleen	Spleen
42	chr16:12443200-12456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:12443200-12456800	Weak transcription	Psoas Muscle	Psoas
44	chr16:12443200-12456800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:12443200-12457000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr16:12443400-12444200	Weak transcription	Primary B cells from cord blood	blood
47	chr16:12443400-12445600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:12443400-12452400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:12443600-12444400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr16:12443600-12470800	Weak transcription	HepG2	liver

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