Variant report

Variant	rs11944503
Chromosome Location	chr4:143305343-143305344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10519644	0.95[ASN][1000 genomes]
rs11930321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499785	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12500699	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12502921	0.92[ASN][1000 genomes]
rs12505845	0.92[ASN][1000 genomes]
rs17016123	0.84[EUR][1000 genomes]
rs2130251	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2130252	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2171756	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28555074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28588752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775704	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4435818	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476678	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4551010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4566727	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59780536	0.90[ASN][1000 genomes]
rs60479909	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60684776	0.92[ASN][1000 genomes]
rs61515079	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66459818	0.90[ASN][1000 genomes]
rs66511868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66537547	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66941440	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67001118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013221	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67111439	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67440355	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67710427	0.95[ASN][1000 genomes]
rs67760986	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs67947007	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67981369	0.85[ASN][1000 genomes]
rs68057722	0.92[ASN][1000 genomes]
rs6820234	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6829034	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6839769	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6851331	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6854342	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72724524	0.95[ASN][1000 genomes]
rs72724531	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72724534	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72941192	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72944948	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs931421	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:143294200-143305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:143296600-143310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:143300200-143326200	Weak transcription	Aorta	Aorta
6	chr4:143301200-143308600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:143301200-143326200	Weak transcription	Gastric	stomach
8	chr4:143301400-143308000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:143301400-143316200	Weak transcription	Dnd41	blood
10	chr4:143301600-143306000	Weak transcription	Right Ventricle	heart
11	chr4:143301600-143308000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:143301600-143308200	Weak transcription	Osteobl	bone
13	chr4:143301600-143312400	Weak transcription	Psoas Muscle	Psoas
14	chr4:143301600-143317400	Weak transcription	NH-A	brain
15	chr4:143301600-143322800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:143301600-143323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143301600-143325400	Weak transcription	Left Ventricle	heart
18	chr4:143301800-143309600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143302200-143315000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:143302200-143316400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:143302200-143323000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:143302400-143305600	Weak transcription	A549	lung
23	chr4:143304200-143305400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:143304200-143305600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:143304200-143305800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:143304200-143306400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:143304400-143305400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:143304400-143305400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:143304400-143305600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:143304400-143305600	Genic enhancers	HSMM	muscle
31	chr4:143304400-143305800	Enhancers	HMEC	breast
32	chr4:143304400-143306200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:143304400-143307800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:143304600-143306000	Strong transcription	Primary T cells from cord blood	blood
35	chr4:143304800-143306000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:143304800-143306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:143305000-143305400	Enhancers	Small Intestine	intestine
38	chr4:143305000-143305800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:143305000-143306200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:143305200-143305400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr4:143305200-143306000	Enhancers	NHEK	skin
42	chr4:143305200-143306600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:143305200-143307000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:143305200-143307800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:143305200-143321200	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links