Variant report

Variant	rs62371475
Chromosome Location	chr5:115218295-115218296
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10039018	0.83[EUR][1000 genomes]
rs10071790	0.84[AMR][1000 genomes]
rs10477546	0.85[EUR][1000 genomes]
rs10519432	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12332651	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17138338	0.92[EUR][1000 genomes]
rs28599770	0.82[AMR][1000 genomes]
rs28844376	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62371473	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62371474	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62371476	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62371477	0.85[EUR][1000 genomes]
rs6864225	0.85[EUR][1000 genomes]
rs6882704	0.91[EUR][1000 genomes]
rs7707960	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7736007	0.93[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3401617	chr5:115205732-115238678	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3368162	chr5:115205767-115230833	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1021968	chr5:115213162-115426468	Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115185600-115218600	Weak transcription	Lung	lung
2	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
5	chr5:115193200-115239000	Weak transcription	Gastric	stomach
6	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
9	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
10	chr5:115200800-115221000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
12	chr5:115205000-115221600	Weak transcription	Spleen	Spleen
13	chr5:115205400-115220600	Weak transcription	Stomach Mucosa	stomach
14	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
15	chr5:115205800-115221400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:115207200-115222600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:115207600-115218400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:115207600-115220800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:115207600-115233600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
25	chr5:115207800-115227400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
27	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:115208000-115218600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:115208000-115229200	Weak transcription	Primary B cells from cord blood	blood
30	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:115208200-115236000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:115208400-115218600	Weak transcription	Left Ventricle	heart
33	chr5:115208400-115220800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:115208600-115235600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:115209200-115234200	Weak transcription	HSMM	muscle
36	chr5:115209400-115218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:115209400-115218400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:115209400-115218400	Weak transcription	Liver	Liver
39	chr5:115209400-115231200	Weak transcription	NHDF-Ad	bronchial
40	chr5:115209400-115232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:115209600-115218600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:115209600-115219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:115209800-115219200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:115209800-115234000	Weak transcription	HUVEC	blood vessel
45	chr5:115210400-115220000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:115211400-115218600	Weak transcription	Pancreas	Pancrea
47	chr5:115211600-115220400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:115212000-115225200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:115212000-115236000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:115212400-115218600	Weak transcription	Monocytes-CD14+_RO01746	blood

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