Variant report

Variant	rs74009107
Chromosome Location	chr16:12599607-12599608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13332990	1.00[AMR][1000 genomes]
rs28565147	1.00[AMR][1000 genomes]
rs28611314	1.00[AMR][1000 genomes]
rs55919627	1.00[AMR][1000 genomes]
rs74009110	1.00[AMR][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:29 , 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	chr16:12567600-12604000	Weak transcription	Ovary	ovary
3	chr16:12573200-12607400	Weak transcription	Aorta	Aorta
4	chr16:12573400-12618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:12578800-12605000	Weak transcription	Right Atrium	heart
6	chr16:12583400-12609000	Weak transcription	Adipose Nuclei	Adipose
7	chr16:12584200-12608800	Weak transcription	Primary T cells from cord blood	blood
8	chr16:12585400-12605000	Weak transcription	GM12878-XiMat	blood
9	chr16:12590400-12606600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:12590400-12609400	Weak transcription	Spleen	Spleen
11	chr16:12591600-12601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:12591800-12609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:12594000-12603600	Weak transcription	Primary B cells from cord blood	blood
14	chr16:12595000-12600800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:12595000-12601000	Weak transcription	Lung	lung
16	chr16:12595200-12604800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:12595200-12606000	Weak transcription	Esophagus	oesophagus
18	chr16:12595400-12603600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:12596200-12600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:12597000-12601000	Weak transcription	HSMMtube	muscle
21	chr16:12597200-12602400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:12597400-12601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:12597400-12605800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:12597400-12612600	Weak transcription	Pancreas	Pancrea
25	chr16:12597600-12603600	Weak transcription	Brain Angular Gyrus	brain
26	chr16:12598000-12603200	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:12598200-12600800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:12598200-12602600	Weak transcription	Brain Substantia Nigra	brain
29	chr16:12598800-12622000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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