Variant report

Variant	rs7730368
Chromosome Location	chr5:40694966-40694967
allele	A/C
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]
rs10036575	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10038769	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10042750	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10055925	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10078575	0.88[ASN][1000 genomes]
rs1345778	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1692252	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28540420	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4509070	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4957342	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57806386	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60770691	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6860328	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6872282	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6873054	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6897169	0.88[ASN][1000 genomes]
rs7716285	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7726270	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs980093	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40684000-40700600	Weak transcription	Left Ventricle	heart
2	chr5:40684600-40700400	Weak transcription	Right Ventricle	heart
3	chr5:40688400-40696400	Weak transcription	Liver	Liver
4	chr5:40688400-40700400	Weak transcription	Stomach Mucosa	stomach
5	chr5:40688800-40696800	Weak transcription	Fetal Lung	lung
6	chr5:40688800-40697000	Strong transcription	Fetal Thymus	thymus
7	chr5:40688800-40718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:40690000-40695800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:40690200-40695200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:40690400-40695200	Strong transcription	HSMM	muscle
11	chr5:40690400-40697200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:40690600-40695400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr5:40690800-40695800	Weak transcription	A549	lung
14	chr5:40691200-40695200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:40691200-40697000	Strong transcription	Primary T cells from cord blood	blood
16	chr5:40691400-40695000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:40691600-40695200	Strong transcription	Adipose Nuclei	Adipose
18	chr5:40691600-40695400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr5:40692200-40701800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:40692400-40695200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:40692600-40698600	Weak transcription	HSMMtube	muscle
23	chr5:40692800-40695200	Strong transcription	Dnd41	blood
24	chr5:40692800-40700400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:40692800-40700400	Weak transcription	Esophagus	oesophagus
26	chr5:40692800-40700400	Weak transcription	Gastric	stomach
27	chr5:40692800-40700400	Weak transcription	Pancreas	Pancrea
28	chr5:40692800-40700400	Weak transcription	Small Intestine	intestine
29	chr5:40692800-40700600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:40692800-40702400	Weak transcription	Colonic Mucosa	Colon
31	chr5:40692800-40721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:40693000-40698200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:40693000-40700800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:40693000-40701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:40693000-40701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:40693000-40702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:40693000-40702000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:40693600-40696600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:40693800-40695400	Weak transcription	NH-A	brain
43	chr5:40693800-40700000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:40694200-40695000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:40694200-40695000	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr5:40694200-40695000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:40694200-40695800	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr5:40694400-40695000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr5:40694400-40695000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:40694400-40695200	ZNF genes & repeats	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links