Variant report

Variant	rs5744658
Chromosome Location	chr5:74874015-74874016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1018119	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872526	0.80[ASN][1000 genomes]
rs16872589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872635	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16872639	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872723	0.88[ASN][1000 genomes]
rs16872724	0.90[ASN][1000 genomes]
rs1909720	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1988728	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2287708	0.90[ASN][1000 genomes]
rs2287709	0.90[ASN][1000 genomes]
rs3925086	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4512110	0.86[ASN][1000 genomes]
rs55705647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55805408	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56361267	0.86[EUR][1000 genomes]
rs5744566	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744567	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744572	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744587	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744591	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5744594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744612	1.00[EUR][1000 genomes]
rs5744661	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744681	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57566899	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58789089	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59115766	0.90[ASN][1000 genomes]
rs59367133	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60005967	0.90[ASN][1000 genomes]
rs60389922	0.90[ASN][1000 genomes]
rs60854109	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61001560	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61080643	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61164763	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61175242	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61678717	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73763098	0.80[ASN][1000 genomes]
rs73763099	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73763101	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73763102	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73764903	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73764904	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73764905	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73764909	0.88[EUR][1000 genomes]
rs73764910	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73764914	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73764915	0.82[EUR][1000 genomes]
rs73764920	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73764921	0.89[EUR][1000 genomes]
rs73764922	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73764925	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764928	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764931	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73764932	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs767677	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs963004	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791146	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
2	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
4	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
6	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:74850000-74878000	Weak transcription	HepG2	liver
9	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:74854000-74883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:74862200-74897800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:74862600-74887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:74862600-74888800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:74862600-74897200	Weak transcription	Lung	lung
15	chr5:74862800-74874800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:74862800-74874800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:74862800-74888600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:74862800-74888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:74862800-74897400	Weak transcription	Pancreas	Pancrea
20	chr5:74862800-74897400	Weak transcription	Spleen	Spleen
21	chr5:74862800-74897600	Weak transcription	Gastric	stomach
22	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
23	chr5:74863000-74886400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:74863000-74896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:74863800-74883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:74864000-74874400	Weak transcription	Right Ventricle	heart
29	chr5:74864000-74875000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:74864000-74877800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:74864000-74884200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:74864000-74889000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:74864000-74897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:74864000-74897400	Weak transcription	NHEK	skin
35	chr5:74864000-74899600	Weak transcription	Hela-S3	cervix
36	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
37	chr5:74864200-74880400	Weak transcription	Stomach Mucosa	stomach
38	chr5:74864200-74884600	Weak transcription	Fetal Heart	heart
39	chr5:74864200-74886400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:74864600-74876800	Weak transcription	HUVEC	blood vessel
41	chr5:74865800-74877000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
43	chr5:74866000-74877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:74866000-74880800	Weak transcription	Ovary	ovary
45	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
46	chr5:74869400-74875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:74869400-74893400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:74871000-74886400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:74871400-74877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:74871400-74877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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