Variant report

Variant	rs12443899
Chromosome Location	chr16:75768121-75768122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1030264	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10871314	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11643215	0.85[AMR][1000 genomes]
rs12445389	0.89[AMR][1000 genomes]
rs12445937	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12446652	0.80[AMR][1000 genomes]
rs12596033	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12596083	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12596724	0.81[EUR][1000 genomes]
rs12597472	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12598094	0.80[AMR][1000 genomes]
rs12598741	0.81[EUR][1000 genomes]
rs12598751	0.81[EUR][1000 genomes]
rs12599322	0.80[AMR][1000 genomes]
rs12600066	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12600271	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17697211	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17764821	0.81[AMR][1000 genomes]
rs17764918	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1836547	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1979717	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2059261	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164245	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2278469	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2289063	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2903096	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35977374	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3743599	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3743603	0.80[AMR][1000 genomes]
rs4633754	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887835	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887836	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887837	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888436	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888437	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888440	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888442	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888448	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888449	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888451	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888452	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4888455	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56954102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57208266	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58091977	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58264015	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58273293	0.81[EUR][1000 genomes]
rs58508930	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58533792	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58597869	0.82[AMR][1000 genomes]
rs58719566	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58846463	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59449831	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60393074	0.80[AMR][1000 genomes]
rs60775162	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60895247	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60952428	0.83[AMR][1000 genomes]
rs61036571	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61183686	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61537885	0.81[EUR][1000 genomes]
rs6564268	0.80[AMR][1000 genomes]
rs7187419	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7187672	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7193066	0.81[AMR][1000 genomes]
rs7195338	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs719574	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8048533	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8048806	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8051713	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8053219	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8055329	0.81[EUR][1000 genomes]
rs9788802	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv906930	chr16:75728261-75872464	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75766200-75768200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:75766200-75768600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:75766600-75768600	Enhancers	Fetal Stomach	stomach
4	chr16:75766600-75768600	Enhancers	Stomach Mucosa	stomach
5	chr16:75766800-75768200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:75766800-75768200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:75766800-75768200	Enhancers	Brain Anterior Caudate	brain
8	chr16:75766800-75768200	Enhancers	Fetal Brain Female	brain
9	chr16:75766800-75768200	Enhancers	Fetal Lung	lung
10	chr16:75766800-75768200	Flanking Active TSS	HSMMtube	muscle
11	chr16:75766800-75768200	Enhancers	NH-A	brain
12	chr16:75766800-75768400	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:75766800-75768400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr16:75766800-75768400	Enhancers	Fetal Intestine Small	intestine
15	chr16:75766800-75768600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:75766800-75768600	Enhancers	Aorta	Aorta
17	chr16:75766800-75768600	Enhancers	Fetal Muscle Leg	muscle
18	chr16:75766800-75768600	Enhancers	Lung	lung
19	chr16:75766800-75768600	Enhancers	Small Intestine	intestine
20	chr16:75767000-75768200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:75767000-75768200	Enhancers	Adipose Nuclei	Adipose
22	chr16:75767000-75768200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:75767200-75768200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr16:75767200-75768200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:75767200-75768200	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr16:75767200-75768200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:75767200-75768600	Enhancers	Fetal Intestine Large	intestine
28	chr16:75767400-75768200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:75767400-75768200	Flanking Active TSS	Ovary	ovary
30	chr16:75767800-75768200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:75767800-75768200	Enhancers	Brain Germinal Matrix	brain
32	chr16:75767800-75768400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:75768000-75768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:75768000-75768400	Enhancers	Rectal Smooth Muscle	rectum
35	chr16:75768000-75768400	Enhancers	Stomach Smooth Muscle	stomach
36	chr16:75768000-75768400	Enhancers	Osteobl	bone
37	chr16:75768000-75768600	Enhancers	NHDF-Ad	bronchial

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