Variant report

Variant	rs4704617
Chromosome Location	chr5:79436459-79436460
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12518629	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13176625	1.00[JPT][hapmap]
rs1470025	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2164993	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35700898	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4703800	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703802	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4703803	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704615	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4704619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891705	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6893919	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7704169	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
2	chr5:79420800-79437000	Weak transcription	Lung	lung
3	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
4	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
6	chr5:79423400-79437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:79424200-79437000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:79424200-79437200	Weak transcription	NHEK	skin
9	chr5:79424400-79436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:79424400-79437000	Weak transcription	Osteobl	bone
11	chr5:79424800-79437200	Weak transcription	HSMM	muscle
12	chr5:79424800-79438600	Weak transcription	Fetal Intestine Large	intestine
13	chr5:79425000-79436600	Weak transcription	HSMMtube	muscle
14	chr5:79425200-79437200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:79425200-79437200	Weak transcription	Placenta	Placenta
16	chr5:79425400-79436600	Weak transcription	Fetal Kidney	kidney
17	chr5:79425400-79438400	Weak transcription	HepG2	liver
18	chr5:79427400-79438400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:79428600-79437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:79428800-79438800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:79429000-79438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:79429200-79436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:79430800-79436600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:79431000-79437000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:79431000-79437000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:79431200-79436600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:79431200-79437400	Weak transcription	Brain Germinal Matrix	brain
28	chr5:79431400-79436800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:79431600-79436600	Weak transcription	Adipose Nuclei	Adipose
30	chr5:79431600-79437000	Weak transcription	Right Atrium	heart
31	chr5:79432000-79436800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:79432000-79437000	Weak transcription	Left Ventricle	heart
33	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
34	chr5:79432600-79437000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:79432800-79436800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:79432800-79437000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:79432800-79437000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:79432800-79437200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr5:79432800-79439200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:79432800-79439600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr5:79433000-79438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:79433000-79440000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:79433400-79437000	Weak transcription	GM12878-XiMat	blood
44	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
45	chr5:79433800-79436600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:79433800-79437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:79433800-79437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:79433800-79437400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:79433800-79438200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:79434000-79436800	Weak transcription	Brain Inferior Temporal Lobe	brain

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