Variant report

Variant	rs72991492
Chromosome Location	chr3:145945646-145945647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145944002..145945741-chr3:145946348..145947988,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs16858173	0.90[EUR][1000 genomes]
rs16858176	0.90[EUR][1000 genomes]
rs16858179	0.90[EUR][1000 genomes]
rs41358845	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41537446	0.90[EUR][1000 genomes]
rs56364069	0.81[EUR][1000 genomes]
rs56945578	0.90[EUR][1000 genomes]
rs57016931	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57202132	0.90[EUR][1000 genomes]
rs57555021	0.90[EUR][1000 genomes]
rs57702664	0.90[EUR][1000 genomes]
rs57852021	0.90[EUR][1000 genomes]
rs58284373	0.90[EUR][1000 genomes]
rs58434679	0.90[EUR][1000 genomes]
rs58523990	0.90[EUR][1000 genomes]
rs59001257	0.90[EUR][1000 genomes]
rs59060080	0.90[EUR][1000 genomes]
rs59125030	0.90[EUR][1000 genomes]
rs59201889	0.90[EUR][1000 genomes]
rs59202860	0.90[EUR][1000 genomes]
rs59652731	0.90[EUR][1000 genomes]
rs60028092	0.90[EUR][1000 genomes]
rs60271422	0.90[EUR][1000 genomes]
rs60489907	0.90[EUR][1000 genomes]
rs60843942	0.90[EUR][1000 genomes]
rs60922478	0.90[EUR][1000 genomes]
rs61440265	0.90[EUR][1000 genomes]
rs6440427	0.90[EUR][1000 genomes]
rs6765013	0.90[EUR][1000 genomes]
rs6766725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767570	0.90[EUR][1000 genomes]
rs6777637	0.90[EUR][1000 genomes]
rs6777974	0.90[EUR][1000 genomes]
rs72991486	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991490	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991494	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992903	0.90[EUR][1000 genomes]
rs72992908	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992924	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992931	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992934	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992963	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992964	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992966	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992968	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992969	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992975	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72992981	0.90[EUR][1000 genomes]
rs72992986	0.90[EUR][1000 genomes]
rs72992988	0.90[EUR][1000 genomes]
rs72992989	0.90[EUR][1000 genomes]
rs72993002	0.90[EUR][1000 genomes]
rs72995008	0.90[EUR][1000 genomes]
rs72995010	0.90[EUR][1000 genomes]
rs72995012	0.90[EUR][1000 genomes]
rs72995014	0.90[EUR][1000 genomes]
rs72995019	0.90[EUR][1000 genomes]
rs72995022	0.90[EUR][1000 genomes]
rs72995025	0.90[EUR][1000 genomes]
rs72995029	0.90[EUR][1000 genomes]
rs72995034	0.90[EUR][1000 genomes]
rs72999169	0.90[EUR][1000 genomes]
rs72999182	0.90[EUR][1000 genomes]
rs72999189	0.90[EUR][1000 genomes]
rs72999197	0.90[EUR][1000 genomes]
rs73001103	0.90[EUR][1000 genomes]
rs73001107	0.90[EUR][1000 genomes]
rs73001112	0.90[EUR][1000 genomes]
rs73001132	0.90[EUR][1000 genomes]
rs73001133	0.90[EUR][1000 genomes]
rs73865394	0.90[EUR][1000 genomes]
rs73867504	0.90[EUR][1000 genomes]
rs73867507	0.90[EUR][1000 genomes]
rs73867511	0.90[EUR][1000 genomes]
rs73867513	0.81[EUR][1000 genomes]
rs73867518	0.90[EUR][1000 genomes]
rs73867520	0.90[EUR][1000 genomes]
rs73867521	0.90[EUR][1000 genomes]
rs73867523	0.90[EUR][1000 genomes]
rs7610563	0.90[EUR][1000 genomes]
rs7629318	0.90[EUR][1000 genomes]
rs7630137	0.90[EUR][1000 genomes]
rs7630230	0.90[EUR][1000 genomes]
rs7632298	0.90[EUR][1000 genomes]
rs7642529	0.81[EUR][1000 genomes]
rs7650158	0.90[EUR][1000 genomes]
rs7650651	0.90[EUR][1000 genomes]
rs7651598	0.90[EUR][1000 genomes]
rs7651977	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7652262	0.90[EUR][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	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877615	chr3:145910430-145988231	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv877616	chr3:145921954-145983688	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3333601	chr3:145940702-146068210	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3416330	chr3:145941029-146068457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
3	chr3:145934600-145952200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:145940600-145953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:145940600-145953600	Weak transcription	NHDF-Ad	bronchial
6	chr3:145941400-145945800	Weak transcription	NHLF	lung
7	chr3:145941400-145948400	Weak transcription	Osteobl	bone
8	chr3:145941600-145946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:145941600-145947000	Weak transcription	Right Atrium	heart
10	chr3:145941600-145952200	Weak transcription	Left Ventricle	heart
11	chr3:145941600-145952600	Weak transcription	Fetal Intestine Small	intestine
12	chr3:145941600-145954000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:145942000-145947000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:145942200-145946800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:145942200-145953400	Weak transcription	HUVEC	blood vessel
16	chr3:145943800-145946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:145943800-145946400	Enhancers	Fetal Lung	lung
18	chr3:145944400-145946000	Enhancers	Fetal Stomach	stomach
19	chr3:145944400-145946200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:145944600-145946400	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:145944800-145945800	Enhancers	Duodenum Mucosa	Duodenum
22	chr3:145944800-145946000	Enhancers	Brain Hippocampus Middle	brain
23	chr3:145944800-145947200	Enhancers	Adipose Nuclei	Adipose
24	chr3:145944800-145947400	Enhancers	Liver	Liver
25	chr3:145945000-145945800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:145945000-145945800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:145945000-145946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:145945200-145945800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:145945200-145946200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:145945200-145946200	Enhancers	Brain Substantia Nigra	brain
31	chr3:145945200-145959800	Weak transcription	Ovary	ovary
32	chr3:145945400-145946000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:145945400-145948200	Weak transcription	Aorta	Aorta
34	chr3:145945600-145945800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:145945600-145946000	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr3:145945600-145946400	Enhancers	Stomach Smooth Muscle	stomach
37	chr3:145945600-145947000	Weak transcription	Pancreas	Pancrea

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