Variant report

Variant	rs62361818
Chromosome Location	chr5:70901956-70901957
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10055460	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10071645	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10073617	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10077085	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10434642	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10474383	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10805884	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10942682	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10942700	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10942702	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10942705	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11746722	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12152748	0.86[AFR][1000 genomes]
rs12153571	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157835	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1553314	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2270920	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4062889	0.86[AMR][1000 genomes]
rs4505929	0.86[AMR][1000 genomes]
rs6452900	0.81[AMR][1000 genomes]
rs6453018	0.83[ASN][1000 genomes]
rs6453035	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6453043	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6872235	0.83[ASN][1000 genomes]
rs6872671	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6877773	0.83[ASN][1000 genomes]
rs6886336	0.83[ASN][1000 genomes]
rs6898471	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs715747	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7378662	0.83[ASN][1000 genomes]
rs7380115	0.83[ASN][1000 genomes]
rs7380280	0.83[ASN][1000 genomes]
rs7444180	0.86[EUR][1000 genomes]
rs7444322	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7446049	0.87[EUR][1000 genomes]
rs7448422	0.86[AMR][1000 genomes]
rs7449295	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7449316	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714527	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9968768	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62361818	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70883800-70906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:70884600-70906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
5	chr5:70893400-70905800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:70893400-70916600	Weak transcription	Gastric	stomach
7	chr5:70893600-70930200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:70893800-70907000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:70893800-70908400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:70894000-70916400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:70895800-70910800	Weak transcription	Spleen	Spleen
12	chr5:70895800-70911600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:70895800-70937800	Weak transcription	Colonic Mucosa	Colon
14	chr5:70896800-70906600	Weak transcription	Thymus	Thymus
15	chr5:70897000-70908600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:70897000-70925800	Weak transcription	Right Ventricle	heart
17	chr5:70897200-70906600	Weak transcription	Fetal Thymus	thymus
18	chr5:70897200-70910800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:70897200-70911800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:70897200-70911800	Weak transcription	Fetal Brain Female	brain
21	chr5:70897200-70916600	Weak transcription	Esophagus	oesophagus
22	chr5:70897200-70930000	Weak transcription	Psoas Muscle	Psoas
23	chr5:70897400-70908400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:70897400-70911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:70897400-70921000	Weak transcription	Fetal Heart	heart
26	chr5:70897400-70933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:70897600-70908400	Weak transcription	Aorta	Aorta
28	chr5:70897600-70910800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:70897600-70911400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:70897600-70911800	Weak transcription	Pancreas	Pancrea
31	chr5:70897800-70906600	Weak transcription	Fetal Intestine Small	intestine
32	chr5:70897800-70911400	Weak transcription	HSMMtube	muscle
33	chr5:70897800-70916400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:70897800-70944800	Weak transcription	Small Intestine	intestine
35	chr5:70898200-70944200	Weak transcription	Osteobl	bone
36	chr5:70898400-70935400	Weak transcription	NHDF-Ad	bronchial
37	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:70898600-70915800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:70898600-70922400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:70898600-70948400	Weak transcription	Brain Germinal Matrix	brain
41	chr5:70898800-70903400	Weak transcription	NH-A	brain
42	chr5:70899600-70911800	Weak transcription	Lung	lung
43	chr5:70900000-70944800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:70900200-70905800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:70900200-70906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:70900200-70906800	Weak transcription	Brain Angular Gyrus	brain
47	chr5:70900200-70906800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:70900200-70908200	Weak transcription	Fetal Intestine Large	intestine
49	chr5:70900200-70908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:70900200-70908600	Weak transcription	Left Ventricle	heart

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