Variant report

Variant	rs67248221
Chromosome Location	chr15:40063583-40063584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1166717	0.82[ASN][1000 genomes]
rs1166721	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12324408	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12439384	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591862	0.86[EUR][1000 genomes]
rs12594027	0.89[ASN][1000 genomes]
rs12594113	0.86[ASN][1000 genomes]
rs12595664	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1491625	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1602543	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16969786	0.89[ASN][1000 genomes]
rs1872762	0.82[ASN][1000 genomes]
rs1906162	0.86[EUR][1000 genomes]
rs1906165	0.87[ASN][1000 genomes]
rs2638012	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60676466	0.87[ASN][1000 genomes]
rs6492913	0.85[ASN][1000 genomes]
rs6492916	0.88[ASN][1000 genomes]
rs67895637	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7168010	0.82[ASN][1000 genomes]
rs7169027	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72727074	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72727076	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72729404	0.93[EUR][1000 genomes]
rs72729408	0.83[EUR][1000 genomes]
rs72729424	0.84[EUR][1000 genomes]
rs73397128	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8028323	0.88[ASN][1000 genomes]
rs8036018	0.85[ASN][1000 genomes]
rs8182052	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40052200-40063600	Weak transcription	Brain Angular Gyrus	brain
2	chr15:40053400-40069400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:40054400-40069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:40059400-40074400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:40062600-40063800	Enhancers	NHLF	lung
6	chr15:40063000-40063600	Enhancers	Brain Substantia Nigra	brain
7	chr15:40063000-40063600	Enhancers	NH-A	brain
8	chr15:40063000-40063800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:40063000-40063800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:40063000-40063800	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:40063000-40063800	Enhancers	Esophagus	oesophagus
12	chr15:40063000-40063800	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:40063000-40063800	Enhancers	Ovary	ovary
14	chr15:40063000-40063800	Enhancers	Right Atrium	heart
15	chr15:40063000-40063800	Enhancers	HSMM	muscle
16	chr15:40063000-40064200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr15:40063000-40064200	Enhancers	Small Intestine	intestine
18	chr15:40063000-40064400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:40063000-40064400	Enhancers	Fetal Stomach	stomach
20	chr15:40063000-40064600	Enhancers	Fetal Muscle Leg	muscle
21	chr15:40063200-40063600	Enhancers	Fetal Lung	lung
22	chr15:40063200-40063800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr15:40063200-40064400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40063200-40064400	Enhancers	Colon Smooth Muscle	Colon
25	chr15:40063200-40064400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr15:40063200-40066600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:40063400-40063600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:40063400-40063600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr15:40063400-40063600	Flanking Active TSS	HepG2	liver
30	chr15:40063400-40063600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr15:40063400-40063800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:40063400-40063800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr15:40063400-40063800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:40063400-40063800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr15:40063400-40063800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr15:40063400-40063800	Enhancers	Colonic Mucosa	Colon
37	chr15:40063400-40063800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr15:40063400-40064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:40063400-40064000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr15:40063400-40064200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40063400-40064200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:40063400-40064200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:40063400-40064200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:40063400-40064200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr15:40063400-40064200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:40063400-40064200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr15:40063400-40064200	Flanking Active TSS	HSMMtube	muscle
48	chr15:40063400-40064400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:40063400-40064400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:40063400-40064400	Flanking Active TSS	Osteobl	bone

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