Variant report

Variant	rs72747958
Chromosome Location	chr5:40720387-40720388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40713762..40716237-chr5:40720241..40722036,2	K562	blood:
2	chr5:40718963..40720614-chr5:40731326..40734090,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10042459	0.93[ASN][1000 genomes]
rs10069737	0.91[ASN][1000 genomes]
rs1015027	0.90[ASN][1000 genomes]
rs10941525	0.91[ASN][1000 genomes]
rs12518018	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363847	0.95[ASN][1000 genomes]
rs17835256	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2194204	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805498	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805499	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4957343	0.86[ASN][1000 genomes]
rs4957347	0.95[ASN][1000 genomes]
rs56752286	0.91[ASN][1000 genomes]
rs62356468	0.82[ASN][1000 genomes]
rs62356508	0.86[ASN][1000 genomes]
rs72747952	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7717814	0.82[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:104 , 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	chr5:40692800-40721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:40694800-40721000	Weak transcription	Thymus	Thymus
7	chr5:40695200-40727000	Weak transcription	HSMM	muscle
8	chr5:40699000-40720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:40700800-40720600	Weak transcription	Left Ventricle	heart
10	chr5:40700800-40720800	Weak transcription	Spleen	Spleen
11	chr5:40700800-40722200	Weak transcription	Lung	lung
12	chr5:40701000-40720800	Weak transcription	Aorta	Aorta
13	chr5:40701000-40722200	Weak transcription	Esophagus	oesophagus
14	chr5:40705600-40727000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:40706400-40720600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:40706400-40720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:40706400-40721000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:40707000-40720600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:40707600-40720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:40709400-40721000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:40709600-40745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:40710400-40721400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:40710600-40720800	Weak transcription	Fetal Thymus	thymus
24	chr5:40710800-40720800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:40711000-40720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:40711000-40720800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:40711200-40721000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:40711800-40720600	Weak transcription	Psoas Muscle	Psoas
29	chr5:40712400-40720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:40712800-40720400	Weak transcription	Primary T cells from cord blood	blood
31	chr5:40712800-40741200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:40713000-40720600	Weak transcription	Ovary	ovary
33	chr5:40713000-40722200	Weak transcription	Gastric	stomach
34	chr5:40713000-40722200	Weak transcription	Pancreas	Pancrea
35	chr5:40713200-40740600	Weak transcription	Right Ventricle	heart
36	chr5:40713600-40721000	Weak transcription	Brain Germinal Matrix	brain
37	chr5:40713600-40734800	Weak transcription	Hela-S3	cervix
38	chr5:40714400-40720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:40714400-40720800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:40714400-40721200	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:40714400-40721400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:40714400-40727400	Weak transcription	Brain Anterior Caudate	brain
43	chr5:40714600-40720800	Weak transcription	Small Intestine	intestine
44	chr5:40714600-40720800	Weak transcription	HSMMtube	muscle
45	chr5:40714600-40739400	Weak transcription	GM12878-XiMat	blood
46	chr5:40714800-40720600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:40715000-40721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:40715400-40733600	Weak transcription	Fetal Heart	heart
49	chr5:40715400-40739400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:40715600-40734800	Weak transcription	NHEK	skin

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