Variant report

Variant	rs11647957
Chromosome Location	chr16:12516840-12516841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1035578	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11075072	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11643639	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11649076	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11859542	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12051092	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12448347	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12924190	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12926226	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12931371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36011100	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780435	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4780436	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4780437	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4780438	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4781231	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4781234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781236	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781238	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4781239	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62028398	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv520000	chr16:12513797-12523161	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
4	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
5	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
12	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12499200-12518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:12499400-12517200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:12501800-12519600	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:12506200-12529600	Weak transcription	Gastric	stomach
18	chr16:12507600-12519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
20	chr16:12507800-12519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:12508800-12523200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:12510200-12523000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:12510800-12517000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:12511400-12519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:12511400-12552000	Weak transcription	Lung	lung
26	chr16:12511600-12527600	Weak transcription	Spleen	Spleen
27	chr16:12512000-12519600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:12513000-12517600	Strong transcription	Primary B cells from cord blood	blood
29	chr16:12513200-12519600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12513200-12536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12513400-12519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:12513600-12527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:12514000-12519800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:12514400-12517200	Enhancers	HepG2	liver
35	chr16:12514400-12526800	Weak transcription	Brain Angular Gyrus	brain
36	chr16:12514600-12519200	Weak transcription	HSMM	muscle
37	chr16:12514800-12529600	Weak transcription	Fetal Brain Female	brain
38	chr16:12515000-12518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:12515000-12519400	Weak transcription	NHEK	skin
40	chr16:12515400-12517200	Enhancers	Fetal Brain Male	brain
41	chr16:12515400-12520000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:12515600-12517200	Enhancers	NHDF-Ad	bronchial
43	chr16:12515600-12517400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:12515600-12517400	Strong transcription	Adipose Nuclei	Adipose
45	chr16:12515600-12517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:12515600-12518000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:12515600-12518400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:12515600-12520000	Weak transcription	K562	blood
49	chr16:12515800-12517000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:12516000-12522600	Weak transcription	Primary T cells from cord blood	blood

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