Variant report

Variant	rs73515632
Chromosome Location	chr16:12087369-12087370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs14817	1.00[AMR][1000 genomes]
rs153026	1.00[AMR][1000 genomes]
rs153027	1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs251725	1.00[AMR][1000 genomes]
rs33628	1.00[AMR][1000 genomes]
rs33632	1.00[AMR][1000 genomes]
rs33634	1.00[AMR][1000 genomes]
rs33656	1.00[AMR][1000 genomes]
rs33658	1.00[AMR][1000 genomes]
rs370768	1.00[AMR][1000 genomes]
rs379936	1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs469657	1.00[AMR][1000 genomes]
rs636664	1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73513691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515617	1.00[EUR][1000 genomes]
rs73515622	1.00[EUR][1000 genomes]
rs73515625	1.00[EUR][1000 genomes]
rs73515626	1.00[EUR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
4	chr16:12072000-12088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:12072000-12093600	Weak transcription	Fetal Stomach	stomach
6	chr16:12072200-12087400	Weak transcription	Fetal Thymus	thymus
7	chr16:12072200-12088200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:12072200-12088200	Weak transcription	Right Ventricle	heart
9	chr16:12072200-12093800	Weak transcription	Thymus	Thymus
10	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr16:12072400-12096400	Weak transcription	Ovary	ovary
13	chr16:12072400-12104400	Weak transcription	NHLF	lung
14	chr16:12072600-12094000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:12072600-12094000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:12074600-12088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:12079600-12109600	Weak transcription	Gastric	stomach
20	chr16:12080200-12090000	Weak transcription	Aorta	Aorta
21	chr16:12080200-12093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:12080600-12088000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:12082000-12091400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:12082000-12093000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:12082200-12087400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr16:12083400-12102800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr16:12083600-12088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:12083800-12088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:12083800-12088400	Weak transcription	K562	blood
30	chr16:12084000-12092000	Weak transcription	NHDF-Ad	bronchial
31	chr16:12084400-12088200	Weak transcription	Left Ventricle	heart
32	chr16:12084400-12088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:12084400-12088200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:12084600-12088200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:12084800-12091600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:12085000-12088000	Weak transcription	Brain Anterior Caudate	brain
37	chr16:12085000-12088000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:12085200-12087400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:12085200-12088000	Weak transcription	Brain Angular Gyrus	brain
40	chr16:12085200-12090400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
42	chr16:12085800-12088800	Enhancers	HepG2	liver
43	chr16:12086000-12087400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:12086200-12089000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:12086400-12087600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr16:12086400-12088600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr16:12086600-12087400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr16:12086600-12087400	Weak transcription	Fetal Kidney	kidney
49	chr16:12086600-12088000	Weak transcription	Primary B cells from cord blood	blood
50	chr16:12086600-12088000	Weak transcription	Primary hematopoietic stem cells	blood

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