Variant report

Variant	rs58712370
Chromosome Location	chr15:42628019-42628020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12437600	0.87[ASN][1000 genomes]
rs12438369	0.89[ASN][1000 genomes]
rs12438509	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12440087	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12441016	0.89[ASN][1000 genomes]
rs1659213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1659218	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1659219	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1659221	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1659222	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1678984	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1678992	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1678993	0.81[AMR][1000 genomes]
rs16972776	0.82[AMR][1000 genomes]
rs16972887	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16973008	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16973045	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16973060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138831	0.81[ASN][1000 genomes]
rs2407707	0.95[ASN][1000 genomes]
rs2412688	0.94[ASN][1000 genomes]
rs28364388	0.89[ASN][1000 genomes]
rs28364390	0.84[ASN][1000 genomes]
rs28364393	0.83[ASN][1000 genomes]
rs2918460	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3736099	0.83[ASN][1000 genomes]
rs3743005	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506867	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923932	0.83[ASN][1000 genomes]
rs4923945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924627	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4924630	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4924631	0.81[ASN][1000 genomes]
rs4924644	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4924672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924674	0.89[ASN][1000 genomes]
rs55882551	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56257215	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56670003	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56702977	0.89[ASN][1000 genomes]
rs56987883	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57134130	0.89[ASN][1000 genomes]
rs57393446	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57933952	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57973092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57976413	0.94[ASN][1000 genomes]
rs58292736	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58313689	0.86[ASN][1000 genomes]
rs59094161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132828	0.89[ASN][1000 genomes]
rs59138723	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59320762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59893734	0.83[ASN][1000 genomes]
rs59974698	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60443443	0.83[ASN][1000 genomes]
rs60634548	0.94[ASN][1000 genomes]
rs61069354	0.94[ASN][1000 genomes]
rs61133768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493033	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7179203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181979	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73398938	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73400993	0.95[ASN][1000 genomes]
rs73402707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403365	0.94[ASN][1000 genomes]
rs73407403	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73407407	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73407488	0.94[ASN][1000 genomes]
rs73409577	0.92[ASN][1000 genomes]
rs8025601	0.89[ASN][1000 genomes]
rs8027016	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8041951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42568600-42630800	Weak transcription	Dnd41	blood
3	chr15:42573400-42635800	Weak transcription	Gastric	stomach
4	chr15:42601200-42636000	Weak transcription	Brain Germinal Matrix	brain
5	chr15:42603200-42636000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:42603400-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:42603400-42648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:42604000-42639400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
10	chr15:42606200-42634600	Weak transcription	Pancreas	Pancrea
11	chr15:42615600-42629000	Weak transcription	Right Ventricle	heart
12	chr15:42615600-42631800	Weak transcription	Lung	lung
13	chr15:42616200-42634600	Weak transcription	Fetal Stomach	stomach
14	chr15:42616200-42636600	Weak transcription	NHEK	skin
15	chr15:42616800-42636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:42617000-42645000	Weak transcription	NHLF	lung
17	chr15:42618000-42636000	Weak transcription	Colonic Mucosa	Colon
18	chr15:42618600-42634800	Weak transcription	Placenta	Placenta
19	chr15:42619600-42634400	Weak transcription	Aorta	Aorta
20	chr15:42619600-42634400	Weak transcription	Ovary	ovary
21	chr15:42619600-42634800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:42619600-42635000	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:42619600-42635600	Weak transcription	Thymus	Thymus
24	chr15:42619600-42635600	Weak transcription	Spleen	Spleen
25	chr15:42619600-42640000	Weak transcription	NHDF-Ad	bronchial
26	chr15:42619600-42647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:42619600-42656200	Weak transcription	HMEC	breast
28	chr15:42620200-42635000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:42620600-42634600	Weak transcription	Fetal Intestine Large	intestine
30	chr15:42620600-42634800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:42621800-42635000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:42621800-42635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:42621800-42636000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:42623800-42630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:42623800-42634800	Weak transcription	Brain Angular Gyrus	brain
36	chr15:42623800-42634800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:42623800-42635400	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:42623800-42635800	Weak transcription	Esophagus	oesophagus
39	chr15:42624000-42630400	Weak transcription	Fetal Heart	heart
40	chr15:42624000-42635600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:42626400-42628200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr15:42626800-42643400	Weak transcription	Fetal Thymus	thymus
43	chr15:42627000-42628600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:42627200-42628200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:42627200-42628200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:42627200-42628200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:42627200-42628600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:42627200-42628600	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr15:42627200-42628600	ZNF genes & repeats	Fetal Brain Female	brain
50	chr15:42627200-42628800	ZNF genes & repeats	Primary B cells from cord blood	blood

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