Variant report

Variant	rs62344973
Chromosome Location	chr5:14317787-14317788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11133785	0.87[EUR][1000 genomes]
rs16903375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903389	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697168	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1697170	0.93[EUR][1000 genomes]
rs2463803	0.93[EUR][1000 genomes]
rs58383010	1.00[EUR][1000 genomes]
rs60768136	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62344976	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62346588	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62346590	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879505	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887831	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697558	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697559	0.95[EUR][1000 genomes]
rs7710935	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7731443	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7732548	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773764	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773765	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773766	0.82[AMR][1000 genomes];0.95[EUR][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	nsv948355	chr5:14160447-14395478	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	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active 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	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
7	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:14307600-14321400	Strong transcription	NH-A	brain
15	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
18	chr5:14310400-14318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
20	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
22	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:14314200-14323600	Strong transcription	HSMMtube	muscle
25	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
26	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
27	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:14314600-14338200	Strong transcription	HSMM	muscle
29	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14314800-14342200	Strong transcription	Osteobl	bone
31	chr5:14315000-14319400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:14315000-14325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:14315200-14323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:14315800-14317800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr5:14315800-14321200	Strong transcription	NHDF-Ad	bronchial
36	chr5:14315800-14321400	Strong transcription	GM12878-XiMat	blood
37	chr5:14316000-14317800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:14316000-14319800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:14316000-14321800	Strong transcription	A549	lung
40	chr5:14316200-14319000	Strong transcription	HepG2	liver
41	chr5:14316200-14319800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:14316200-14321400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:14316200-14324000	Strong transcription	Fetal Intestine Large	intestine
44	chr5:14316200-14325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:14316400-14317800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:14316400-14317800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:14316400-14317800	Strong transcription	Aorta	Aorta
49	chr5:14316400-14317800	Strong transcription	Colonic Mucosa	Colon
50	chr5:14316400-14317800	Strong transcription	Esophagus	oesophagus

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