Variant report

Variant	rs4704619
Chromosome Location	chr5:79437439-79437440
allele	C/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	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13176625	1.00[JPT][hapmap]
rs1470025	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs2164993	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35700898	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4703800	0.90[EUR][1000 genomes]
rs4703802	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4703803	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704615	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704617	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];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6893919	0.88[AMR][1000 genomes];0.94[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
2	chr5:79424800-79438600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:79425400-79438400	Weak transcription	HepG2	liver
4	chr5:79427400-79438400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:79428800-79438800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:79429000-79438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
8	chr5:79432800-79439200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:79432800-79439600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:79433000-79438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:79433000-79440000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
13	chr5:79433800-79438200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:79434000-79438200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:79434400-79439200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:79434600-79438800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:79435200-79438400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:79435200-79438600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:79435200-79439000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:79435200-79447600	Strong transcription	Liver	Liver
21	chr5:79435400-79438600	Enhancers	Fetal Lung	lung
22	chr5:79435400-79439600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:79435400-79439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:79435400-79439600	Genic enhancers	Fetal Thymus	thymus
25	chr5:79435600-79438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:79435600-79440400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:79435800-79437600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:79435800-79437800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:79435800-79438400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:79435800-79438400	Enhancers	Fetal Muscle Leg	muscle
31	chr5:79435800-79440000	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr5:79435800-79440600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
34	chr5:79436000-79439000	Weak transcription	Colonic Mucosa	Colon
35	chr5:79436000-79441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:79436200-79437800	Enhancers	Primary T cells from cord blood	blood
37	chr5:79436400-79437600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:79436400-79438400	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:79436400-79439400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:79436400-79439800	Enhancers	Fetal Heart	heart
41	chr5:79436400-79440800	Enhancers	Brain Hippocampus Middle	brain
42	chr5:79436600-79437800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:79436600-79437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:79436600-79437800	Enhancers	Adipose Nuclei	Adipose
45	chr5:79436600-79437800	Enhancers	Fetal Kidney	kidney
46	chr5:79436600-79438000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:79436600-79438200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:79436600-79438400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr5:79436600-79438800	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:79436600-79439000	Enhancers	Brain Substantia Nigra	brain

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