Variant report

Variant	rs62371473
Chromosome Location	chr5:115213953-115213954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10039018	0.90[EUR][1000 genomes]
rs10056468	0.82[AMR][1000 genomes]
rs10071790	0.80[AMR][1000 genomes]
rs10477546	0.88[EUR][1000 genomes]
rs10519432	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11241339	0.85[AMR][1000 genomes]
rs12332651	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17138338	0.80[EUR][1000 genomes]
rs28844376	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62371474	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62371475	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62371476	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62371477	0.88[EUR][1000 genomes]
rs62371493	0.80[AMR][1000 genomes]
rs6864225	0.88[EUR][1000 genomes]
rs7707960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7736007	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9326977	0.85[AMR][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:87 , 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	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
10	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
11	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
12	chr5:115200400-115218200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:115200800-115221000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:115201000-115218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:115202000-115218000	Weak transcription	Fetal Stomach	stomach
16	chr5:115203000-115218000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
18	chr5:115205000-115218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:115205000-115221600	Weak transcription	Spleen	Spleen
20	chr5:115205400-115220600	Weak transcription	Stomach Mucosa	stomach
21	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
22	chr5:115205800-115221400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:115206400-115218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:115206800-115218200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:115207000-115218000	Weak transcription	Placenta	Placenta
26	chr5:115207000-115218200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:115207200-115215200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:115207200-115222600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:115207600-115218400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:115207600-115220800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:115207600-115233600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
37	chr5:115207800-115218000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:115207800-115218000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:115207800-115227400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
41	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:115208000-115214000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:115208000-115214200	Weak transcription	Fetal Brain Female	brain
44	chr5:115208000-115218000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:115208000-115218200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:115208000-115218200	Weak transcription	Thymus	Thymus
47	chr5:115208000-115218600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:115208000-115229200	Weak transcription	Primary B cells from cord blood	blood
49	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:115208200-115218200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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