Variant report

Variant	rs2315519
Chromosome Location	chr5:70769907-70769908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10942466	0.84[ASN][1000 genomes]
rs11740849	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11742923	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11744961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12109984	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12110291	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12514575	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12658383	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13153636	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13158264	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13165848	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13168805	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13175174	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13185743	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1423358	0.83[ASN][1000 genomes]
rs1559260	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs156753	0.86[EUR][1000 genomes]
rs156754	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs156755	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs157046	0.83[AMR][1000 genomes]
rs1693895	0.83[AMR][1000 genomes]
rs1698063	0.81[AMR][1000 genomes]
rs17334377	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs175872	0.82[AMR][1000 genomes]
rs1833856	0.80[AMR][1000 genomes]
rs185733	0.83[AMR][1000 genomes]
rs1961760	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2059192	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2059193	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2059194	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2059195	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2315534	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432059	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2432060	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2454086	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2652615	0.86[EUR][1000 genomes]
rs276590	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs276591	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs276593	0.86[EUR][1000 genomes]
rs276594	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs276595	0.86[EUR][1000 genomes]
rs276599	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs277942	0.81[AMR][1000 genomes]
rs277944	0.81[AMR][1000 genomes]
rs277945	0.83[AMR][1000 genomes]
rs277948	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs277957	0.83[AMR][1000 genomes]
rs277958	0.83[AMR][1000 genomes]
rs277960	0.83[AMR][1000 genomes]
rs277961	0.81[AMR][1000 genomes]
rs277962	0.83[AMR][1000 genomes]
rs277963	0.83[AMR][1000 genomes]
rs277964	0.83[AMR][1000 genomes]
rs277965	0.83[AMR][1000 genomes]
rs277966	0.81[AMR][1000 genomes]
rs277967	0.82[AMR][1000 genomes]
rs277969	0.86[EUR][1000 genomes]
rs279290	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs279337	0.83[AMR][1000 genomes]
rs34029702	0.83[ASN][1000 genomes]
rs35327154	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35420270	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35696325	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36036841	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3761965	0.81[AMR][1000 genomes]
rs3761967	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs378585	0.83[AMR][1000 genomes]
rs3890749	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs404692	0.80[AMR][1000 genomes]
rs418738	0.81[AMR][1000 genomes]
rs4337836	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs439698	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs441691	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs457908	0.83[AMR][1000 genomes]
rs458009	0.83[AMR][1000 genomes]
rs458370	0.83[AMR][1000 genomes]
rs459298	0.83[AMR][1000 genomes]
rs461215	0.83[AMR][1000 genomes]
rs462282	0.83[AMR][1000 genomes]
rs463871	0.83[AMR][1000 genomes]
rs464594	0.83[AMR][1000 genomes]
rs464962	0.83[AMR][1000 genomes]
rs465073	0.83[AMR][1000 genomes]
rs466930	0.83[AMR][1000 genomes]
rs467413	0.83[AMR][1000 genomes]
rs467851	0.83[AMR][1000 genomes]
rs468028	0.83[AMR][1000 genomes]
rs468033	0.83[AMR][1000 genomes]
rs468158	0.83[AMR][1000 genomes]
rs468446	0.83[AMR][1000 genomes]
rs468564	0.83[AMR][1000 genomes]
rs468633	0.83[AMR][1000 genomes]
rs468658	0.83[AMR][1000 genomes]
rs468776	0.83[AMR][1000 genomes]
rs468832	0.83[AMR][1000 genomes]
rs469039	0.83[AMR][1000 genomes]
rs469369	0.83[AMR][1000 genomes]
rs4703986	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704049	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704096	0.83[AMR][1000 genomes]
rs560394	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62374360	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66528760	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6871754	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs715748	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7442961	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7443763	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7444320	0.82[EUR][1000 genomes]
rs7447146	0.85[EUR][1000 genomes]
rs7447545	0.83[ASN][1000 genomes]
rs7448990	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7702940	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7726336	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7732361	0.83[ASN][1000 genomes]
rs7737101	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs986217	0.83[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	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	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2315519	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752600-70777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:70752600-70789200	Weak transcription	Small Intestine	intestine
3	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:70753000-70781400	Weak transcription	Fetal Heart	heart
5	chr5:70753400-70771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:70753600-70777800	Weak transcription	Stomach Mucosa	stomach
7	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:70754400-70770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:70754400-70772200	Strong transcription	Dnd41	blood
10	chr5:70754400-70773200	Strong transcription	Adipose Nuclei	Adipose
11	chr5:70754400-70773600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:70754400-70773800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr5:70754400-70774800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:70754400-70774800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:70754400-70774800	Strong transcription	Placenta	Placenta
16	chr5:70754400-70777800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:70754400-70778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:70754400-70795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine
21	chr5:70754400-70824200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:70754600-70773600	Strong transcription	Fetal Thymus	thymus
23	chr5:70754600-70774400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:70754600-70774800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr5:70754600-70820400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:70754600-70820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:70755800-70777800	Weak transcription	Psoas Muscle	Psoas
28	chr5:70759400-70779000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:70759400-70780000	Weak transcription	Fetal Brain Male	brain
30	chr5:70759600-70778200	Weak transcription	NHLF	lung
31	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:70760200-70770200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:70760200-70798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:70761400-70777800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:70761600-70776400	Weak transcription	Esophagus	oesophagus
36	chr5:70761800-70777800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:70761800-70786800	Weak transcription	Aorta	Aorta
38	chr5:70763000-70779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:70763400-70770600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:70763400-70773800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:70763400-70777400	Strong transcription	Fetal Intestine Small	intestine
42	chr5:70763400-70777600	Strong transcription	Fetal Stomach	stomach
43	chr5:70763600-70771000	Weak transcription	Fetal Kidney	kidney
44	chr5:70763800-70770200	Weak transcription	Colonic Mucosa	Colon
45	chr5:70763800-70777800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:70764200-70770000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:70764800-70774200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr5:70765200-70774200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:70765400-70820400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:70765400-70820400	Strong transcription	Primary B cells from peripheral blood	blood

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