Variant report

Variant	rs12518629
Chromosome Location	chr5:79432729-79432730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1470025	0.91[EUR][1000 genomes]
rs2164993	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35700898	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4703800	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703802	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703803	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704615	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704617	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704619	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6891705	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893919	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
2	chr5:79419600-79435200	Weak transcription	Liver	Liver
3	chr5:79420800-79437000	Weak transcription	Lung	lung
4	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
5	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
9	chr5:79423400-79437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79424200-79437000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:79424200-79437200	Weak transcription	NHEK	skin
12	chr5:79424400-79436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:79424400-79437000	Weak transcription	Osteobl	bone
14	chr5:79424800-79437200	Weak transcription	HSMM	muscle
15	chr5:79424800-79438600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:79425000-79436600	Weak transcription	HSMMtube	muscle
17	chr5:79425200-79433400	Weak transcription	Fetal Stomach	stomach
18	chr5:79425200-79437200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:79425200-79437200	Weak transcription	Placenta	Placenta
20	chr5:79425400-79433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:79425400-79435800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:79425400-79436600	Weak transcription	Fetal Kidney	kidney
23	chr5:79425400-79438400	Weak transcription	HepG2	liver
24	chr5:79426800-79433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:79427200-79435400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:79427400-79433600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:79427400-79438400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr5:79427600-79434200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:79428600-79437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:79428800-79432800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:79428800-79438800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:79429000-79438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:79429200-79436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:79429600-79435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:79429800-79433000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:79430600-79432800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr5:79430600-79432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:79430600-79433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:79430600-79433800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:79430600-79434800	Enhancers	Primary B cells from cord blood	blood
41	chr5:79430800-79432800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:79430800-79434000	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:79430800-79435600	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:79430800-79436600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:79431000-79433000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:79431000-79433000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:79431000-79433600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:79431000-79435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:79431000-79435400	Weak transcription	Fetal Lung	lung
50	chr5:79431000-79437000	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links