Variant report

Variant	rs17139604
Chromosome Location	chr5:115707312-115707313
allele	A/G
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:18)

rs_ID	r²[population]
rs17139607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863988	0.94[AFR][1000 genomes]
rs56168251	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57209700	0.94[EUR][1000 genomes]
rs57526524	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58291729	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58776100	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59909017	0.94[AFR][1000 genomes]
rs72808976	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808977	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72808978	0.82[EUR][1000 genomes]
rs72808979	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808981	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808984	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808985	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808987	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808989	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808992	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
3	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
4	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:115697600-115707400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:115697600-115708200	Weak transcription	Lung	lung
9	chr5:115697600-115712000	Weak transcription	Aorta	Aorta
10	chr5:115697600-115714000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:115697800-115708200	Weak transcription	Psoas Muscle	Psoas
13	chr5:115697800-115708400	Weak transcription	Colonic Mucosa	Colon
14	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
15	chr5:115698400-115714000	Weak transcription	Right Ventricle	heart
16	chr5:115699400-115710200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:115705200-115707400	Enhancers	Primary T cells from cord blood	blood
18	chr5:115705200-115713000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:115705600-115707400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:115705600-115708200	Weak transcription	Esophagus	oesophagus
21	chr5:115705800-115708200	Weak transcription	Left Ventricle	heart
22	chr5:115706000-115707600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:115706000-115708000	Enhancers	Fetal Kidney	kidney
24	chr5:115706000-115708400	Weak transcription	Right Atrium	heart
25	chr5:115706000-115708800	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:115706000-115708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:115706200-115707400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:115706200-115707400	Weak transcription	Brain Anterior Caudate	brain
30	chr5:115706200-115707600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:115706200-115708200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:115706200-115708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:115706400-115707400	Enhancers	Dnd41	blood
34	chr5:115706400-115707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:115706400-115707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:115706400-115708200	Enhancers	Liver	Liver
37	chr5:115706600-115707400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:115706600-115707400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:115706600-115708600	Enhancers	Fetal Intestine Small	intestine
40	chr5:115706600-115708600	Enhancers	HepG2	liver
41	chr5:115706800-115707600	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:115706800-115707600	Enhancers	Fetal Intestine Large	intestine
43	chr5:115706800-115711600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:115706800-115723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:115707000-115707400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:115707000-115707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:115707000-115708200	Enhancers	HUVEC	blood vessel
48	chr5:115707000-115708200	Enhancers	K562	blood
49	chr5:115707000-115709600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr5:115707200-115707400	Enhancers	Fetal Muscle Leg	muscle

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