Variant report

Variant	rs17139507
Chromosome Location	chr5:115658904-115658905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1031363	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1422498	1.00[YRI][hapmap]
rs1549629	1.00[EUR][1000 genomes]
rs1567336	1.00[YRI][hapmap]
rs17138918	1.00[CEU][hapmap]
rs17139210	1.00[YRI][hapmap]
rs17139218	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17139272	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17139308	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17139323	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17139432	0.96[EUR][1000 genomes]
rs2063251	1.00[CEU][hapmap]
rs2900096	1.00[CEU][hapmap]
rs4342363	0.81[EUR][1000 genomes]
rs4392665	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4403214	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs60462627	0.96[EUR][1000 genomes]
rs6861593	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6863773	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6872204	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6897052	0.96[EUR][1000 genomes]
rs7701626	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7706895	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs7708270	0.89[EUR][1000 genomes]
rs7714974	0.92[EUR][1000 genomes]
rs7728830	0.96[EUR][1000 genomes]
rs7729217	1.00[EUR][1000 genomes]
rs7732371	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	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
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:115643200-115660200	Weak transcription	Placenta	Placenta
3	chr5:115643200-115664200	Weak transcription	Thymus	Thymus
4	chr5:115643200-115664800	Weak transcription	Pancreas	Pancrea
5	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:115644400-115664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:115647600-115660400	Weak transcription	Small Intestine	intestine
9	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
10	chr5:115649200-115663200	Weak transcription	HSMMtube	muscle
11	chr5:115650800-115659200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115652000-115665000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:115652000-115668000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:115652800-115659400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:115653000-115667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:115653200-115659200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:115653400-115664600	Weak transcription	Psoas Muscle	Psoas
18	chr5:115653600-115659200	Weak transcription	Aorta	Aorta
19	chr5:115653600-115660000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:115653600-115670400	Weak transcription	Right Ventricle	heart
21	chr5:115654400-115661000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:115654400-115664600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:115654600-115664400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:115654600-115664400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:115654600-115664800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:115654600-115665000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:115654600-115669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:115655000-115660000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:115655200-115659800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:115655200-115663800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:115655200-115664400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:115655400-115663800	Weak transcription	Lung	lung
33	chr5:115655400-115664400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:115655400-115669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:115656400-115666400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:115657000-115663200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:115657000-115664400	Weak transcription	Adipose Nuclei	Adipose
38	chr5:115657000-115665000	Weak transcription	Liver	Liver
39	chr5:115657400-115663800	Weak transcription	Primary T cells from cord blood	blood
40	chr5:115657600-115660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:115657800-115659200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:115657800-115659400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr5:115657800-115659400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr5:115658000-115659200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:115658000-115659400	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr5:115658200-115659400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr5:115658200-115660400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:115658400-115659400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:115658400-115659400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:115658400-115659400	ZNF genes & repeats	Fetal Muscle Leg	muscle

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