Variant report

Variant	rs12518018
Chromosome Location	chr5:40725105-40725106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10042459	0.92[ASN][1000 genomes]
rs10069737	0.89[ASN][1000 genomes]
rs1015027	0.87[ASN][1000 genomes]
rs10941525	0.89[ASN][1000 genomes]
rs12523329	0.80[EUR][1000 genomes]
rs1363847	0.90[ASN][1000 genomes]
rs17835256	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2194204	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792824	0.80[EUR][1000 genomes]
rs3805492	0.80[EUR][1000 genomes]
rs3805494	0.80[EUR][1000 genomes]
rs3805498	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805499	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957343	0.81[ASN][1000 genomes]
rs4957347	0.90[ASN][1000 genomes]
rs56752286	0.89[ASN][1000 genomes]
rs62356508	0.91[ASN][1000 genomes]
rs72747952	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72747958	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	esv3432300	chr5:40698244-40726882	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:40695200-40727000	Weak transcription	HSMM	muscle
6	chr5:40705600-40727000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:40709600-40745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:40712800-40741200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:40713200-40740600	Weak transcription	Right Ventricle	heart
10	chr5:40713600-40734800	Weak transcription	Hela-S3	cervix
11	chr5:40714400-40727400	Weak transcription	Brain Anterior Caudate	brain
12	chr5:40714600-40739400	Weak transcription	GM12878-XiMat	blood
13	chr5:40715400-40733600	Weak transcription	Fetal Heart	heart
14	chr5:40715400-40739400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:40715600-40734800	Weak transcription	NHEK	skin
16	chr5:40716400-40733200	Weak transcription	HUVEC	blood vessel
17	chr5:40716400-40733600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:40716400-40733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:40717000-40727400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:40717600-40733600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:40717800-40727400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:40717800-40733600	Weak transcription	Brain Substantia Nigra	brain
23	chr5:40717800-40733600	Weak transcription	NHDF-Ad	bronchial
24	chr5:40717800-40734400	Weak transcription	NH-A	brain
25	chr5:40718000-40727000	Weak transcription	Osteobl	bone
26	chr5:40718000-40727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:40720000-40727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:40720000-40733600	Weak transcription	Fetal Kidney	kidney
29	chr5:40721200-40727600	Weak transcription	HepG2	liver
30	chr5:40721200-40733800	Weak transcription	Psoas Muscle	Psoas
31	chr5:40721200-40739600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:40721400-40727400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:40721400-40727400	Weak transcription	HSMMtube	muscle
34	chr5:40721400-40735000	Weak transcription	Small Intestine	intestine
35	chr5:40721400-40739600	Weak transcription	Placenta	Placenta
36	chr5:40721400-40741400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:40721600-40727400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:40721600-40727400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:40721600-40727600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:40721600-40727600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:40721600-40733600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:40721600-40733800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:40721600-40736000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:40721800-40725400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:40721800-40731200	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:40721800-40733600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:40721800-40733800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:40721800-40735800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:40721800-40738800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:40721800-40739000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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