Variant report

Variant	rs11723520
Chromosome Location	chr4:129992880-129992881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11098995	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098996	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722717	0.83[ASN][1000 genomes]
rs11725174	0.83[AFR][1000 genomes]
rs11726460	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728986	0.83[AFR][1000 genomes]
rs11736968	0.83[AFR][1000 genomes]
rs11737003	0.83[AFR][1000 genomes]
rs11737495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500480	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500938	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501507	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12501997	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12505609	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12509933	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13107038	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115576	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13118479	0.95[ASN][1000 genomes]
rs13124420	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13129706	0.95[ASN][1000 genomes]
rs13134769	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13142673	0.83[AFR][1000 genomes]
rs13144594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146453	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185515	0.82[ASN][1000 genomes]
rs17351999	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17789626	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34145504	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34359646	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34514942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34633860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810794	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35094990	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35363237	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35501727	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35693043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961303	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35975200	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754476	0.83[AFR][1000 genomes]
rs4552476	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62316964	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62316972	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317936	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62318662	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66737416	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:129983000-129994000	Weak transcription	Fetal Kidney	kidney
3	chr4:129983000-130001600	Weak transcription	Fetal Heart	heart
4	chr4:129985000-130000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:129985000-130000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:129985000-130000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:129985000-130000200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:129985200-129993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:129985200-129993800	Weak transcription	Fetal Thymus	thymus
10	chr4:129985200-129993800	Weak transcription	Thymus	Thymus
11	chr4:129985200-129994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:129985200-129994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:129985200-129994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:129985200-129994000	Weak transcription	Left Ventricle	heart
15	chr4:129985200-129994000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:129985200-129994000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:129985200-129994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:129985200-129994200	Weak transcription	Esophagus	oesophagus
19	chr4:129985200-129994200	Weak transcription	K562	blood
20	chr4:129985200-129997200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:129985200-129999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:129985200-130000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:129985200-130000000	Weak transcription	Fetal Stomach	stomach
24	chr4:129985200-130000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:129985200-130000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:129985200-130000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:129985200-130000600	Weak transcription	Adipose Nuclei	Adipose
28	chr4:129985200-130000600	Weak transcription	Placenta	Placenta
29	chr4:129985200-130000600	Weak transcription	Gastric	stomach
30	chr4:129985200-130000600	Weak transcription	Lung	lung
31	chr4:129985200-130000600	Weak transcription	Ovary	ovary
32	chr4:129985200-130000600	Weak transcription	Spleen	Spleen
33	chr4:129985200-130001000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:129985200-130001200	Weak transcription	Small Intestine	intestine
35	chr4:129985200-130002200	Weak transcription	Pancreas	Pancrea
36	chr4:129985200-130012200	Weak transcription	HSMM	muscle
37	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:129985400-129993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:129985600-129993200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:129986600-130000800	Weak transcription	Osteobl	bone
42	chr4:129986600-130001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:129987200-129994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:129987400-130000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:129987600-130000600	Weak transcription	NHLF	lung
47	chr4:129989200-129994000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:129989200-129994000	Weak transcription	Aorta	Aorta
49	chr4:129990400-130004000	Weak transcription	Right Ventricle	heart
50	chr4:129990800-129996800	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links