Variant report

Variant	rs469142
Chromosome Location	chr5:70867962-70867963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70865719..70868143-chr5:70930530..70933476,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10942683	0.89[ASN][1000 genomes]
rs11740849	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11742923	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11744961	0.86[EUR][1000 genomes]
rs12109984	0.87[EUR][1000 genomes]
rs12514575	0.87[EUR][1000 genomes]
rs12658383	0.86[EUR][1000 genomes]
rs13153636	0.87[EUR][1000 genomes]
rs13165848	0.86[EUR][1000 genomes]
rs13168805	0.87[EUR][1000 genomes]
rs13175174	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13185319	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1559260	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156753	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs156754	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs156755	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs157044	0.80[EUR][1000 genomes]
rs157045	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157046	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs166757	0.81[EUR][1000 genomes]
rs1693895	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1698063	0.84[ASN][1000 genomes]
rs172148	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17334377	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs175872	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs182190	0.89[ASN][1000 genomes]
rs1833856	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs185733	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs188059	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190692	0.87[ASN][1000 genomes]
rs1961760	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2059192	0.86[EUR][1000 genomes]
rs2059194	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059195	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2315534	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432059	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432060	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2454086	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2646639	0.84[ASN][1000 genomes]
rs2652615	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs276590	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276591	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276592	0.82[ASN][1000 genomes]
rs276593	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276594	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276595	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276597	0.87[ASN][1000 genomes]
rs276598	0.89[ASN][1000 genomes]
rs276599	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs276600	0.89[ASN][1000 genomes]
rs276601	0.89[ASN][1000 genomes]
rs277939	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277940	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277942	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277944	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277945	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277948	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs277957	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs277958	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs277960	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277961	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277962	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277963	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277964	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277965	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277966	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277967	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs277969	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs279290	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs279291	0.89[ASN][1000 genomes]
rs279322	0.84[ASN][1000 genomes]
rs279337	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35420270	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35696325	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs375458	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3761965	0.83[ASN][1000 genomes]
rs3761967	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs378585	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384732	0.83[ASN][1000 genomes]
rs392791	0.83[ASN][1000 genomes]
rs404692	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410776	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs418738	0.84[ASN][1000 genomes]
rs4337836	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439698	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441691	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs445771	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs457908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458009	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs458150	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs458370	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs458534	0.92[ASN][1000 genomes]
rs459298	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs459787	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs460778	0.80[AMR][1000 genomes]
rs461215	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs462282	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs463871	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs464155	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464594	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464962	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs465073	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs466930	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs467160	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs467381	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467413	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467563	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467620	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467851	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468028	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468033	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468128	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468158	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468446	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468467	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs468564	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468633	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468658	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468776	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468832	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469039	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469369	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469379	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469548	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs469617	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4703986	0.86[EUR][1000 genomes]
rs4704049	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4704096	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541035	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs560394	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62361813	0.80[EUR][1000 genomes]
rs62374360	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66528760	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6871754	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs715748	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7442961	0.86[EUR][1000 genomes]
rs7444320	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7447146	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7448990	0.86[EUR][1000 genomes]
rs7702940	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7726336	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7737101	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9791120	0.84[EUR][1000 genomes];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	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	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
3	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
rs469142	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
3	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:70847600-70869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:70850000-70882200	Weak transcription	Psoas Muscle	Psoas
8	chr5:70856800-70882400	Weak transcription	NHEK	skin
9	chr5:70857000-70882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:70857800-70882200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:70858600-70873800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:70858800-70869600	Weak transcription	HepG2	liver
13	chr5:70858800-70882200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:70858800-70882200	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:70859200-70869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:70859200-70872400	Weak transcription	Ovary	ovary
17	chr5:70859200-70882400	Weak transcription	Right Ventricle	heart
18	chr5:70859400-70869600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:70859400-70882200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:70861400-70882200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:70861400-70882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:70861600-70868200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:70861600-70869400	Weak transcription	K562	blood
24	chr5:70861600-70870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:70861600-70882200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:70861600-70882200	Weak transcription	GM12878-XiMat	blood
27	chr5:70861600-70882400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:70863200-70882400	Weak transcription	HUVEC	blood vessel
29	chr5:70864200-70882400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:70864200-70882400	Weak transcription	HSMM	muscle
31	chr5:70864400-70869400	Weak transcription	Gastric	stomach
32	chr5:70864400-70869600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:70864400-70872400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:70864400-70873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:70864400-70881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:70864400-70882000	Weak transcription	Liver	Liver
37	chr5:70864400-70882200	Weak transcription	Left Ventricle	heart
38	chr5:70864400-70882200	Weak transcription	Pancreas	Pancrea
39	chr5:70864400-70882400	Weak transcription	HSMMtube	muscle
40	chr5:70864600-70868000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:70864600-70869200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:70864600-70869400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:70864600-70869400	Weak transcription	Fetal Lung	lung
44	chr5:70864600-70869600	Weak transcription	Aorta	Aorta
45	chr5:70864600-70869800	Weak transcription	Fetal Kidney	kidney
46	chr5:70864600-70870600	Weak transcription	NH-A	brain
47	chr5:70864600-70872600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:70864600-70873000	Weak transcription	Adipose Nuclei	Adipose
49	chr5:70864600-70873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:70864600-70873800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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