Variant report

Variant	rs74009110
Chromosome Location	chr16:12604906-12604907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13332990	1.00[AMR][1000 genomes]
rs28565147	1.00[AMR][1000 genomes]
rs28611314	1.00[AMR][1000 genomes]
rs55919627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009107	1.00[AMR][1000 genomes]
rs74009112	0.92[AFR][1000 genomes]
rs74009118	1.00[AMR][1000 genomes]
rs74009119	1.00[AMR][1000 genomes]
rs74009121	1.00[AMR][1000 genomes]
rs8055500	1.00[AMR][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	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
3	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
4	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
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12564800-12618400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12573200-12607400	Weak transcription	Aorta	Aorta
3	chr16:12573400-12618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12578800-12605000	Weak transcription	Right Atrium	heart
5	chr16:12583400-12609000	Weak transcription	Adipose Nuclei	Adipose
6	chr16:12584200-12608800	Weak transcription	Primary T cells from cord blood	blood
7	chr16:12585400-12605000	Weak transcription	GM12878-XiMat	blood
8	chr16:12590400-12606600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12590400-12609400	Weak transcription	Spleen	Spleen
10	chr16:12591800-12609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:12595200-12606000	Weak transcription	Esophagus	oesophagus
12	chr16:12597400-12605800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:12597400-12612600	Weak transcription	Pancreas	Pancrea
14	chr16:12598800-12622000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:12601200-12609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:12601400-12611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:12601400-12625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:12601800-12605000	Weak transcription	Osteobl	bone
19	chr16:12601800-12609200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12602200-12607000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:12602200-12622600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12602400-12612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:12602600-12608400	Enhancers	Brain Substantia Nigra	brain
24	chr16:12603200-12605000	Enhancers	Brain Hippocampus Middle	brain
25	chr16:12603200-12626400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:12603400-12608400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr16:12603400-12609000	Enhancers	Brain Anterior Caudate	brain
28	chr16:12603600-12605600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:12603600-12608200	Enhancers	Brain Cingulate Gyrus	brain
30	chr16:12603600-12608400	Enhancers	Brain Angular Gyrus	brain
31	chr16:12603800-12605000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:12603800-12609400	Weak transcription	Lung	lung
33	chr16:12604000-12605400	Enhancers	HSMMtube	muscle
34	chr16:12604000-12606200	Enhancers	Ovary	ovary
35	chr16:12604200-12605000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:12604200-12608800	Weak transcription	Primary B cells from cord blood	blood
37	chr16:12604400-12605000	Enhancers	Fetal Muscle Trunk	muscle
38	chr16:12604600-12605000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:12604600-12605200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12604600-12605400	Enhancers	Fetal Muscle Leg	muscle
41	chr16:12604600-12606000	Enhancers	Left Ventricle	heart
42	chr16:12604600-12606000	Enhancers	Right Ventricle	heart
43	chr16:12604600-12606600	Enhancers	Fetal Heart	heart
44	chr16:12604600-12607000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:12604800-12606000	Enhancers	Primary B cells from peripheral blood	blood
46	chr16:12604800-12608800	Weak transcription	Fetal Stomach	stomach

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