Variant report

Variant	rs10942466
Chromosome Location	chr5:70762447-70762448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70750160..70755363-chr5:70755604..70762448,10	MCF-7	breast:
2	chr5:70750673..70752784-chr5:70760587..70762895,2	MCF-7	breast:
3	chr5:70761475..70763695-chr5:70779262..70782933,3	K562	blood:

Variant related genes	Relation type
ENSG00000145734	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10942683	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11740849	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742923	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744961	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12109984	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12110291	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12520417	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12658383	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13153636	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13158264	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165848	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13168805	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13175174	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13185743	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423358	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs149114	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1559260	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156753	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs156754	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs156755	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs157044	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs157046	0.81[AMR][1000 genomes]
rs1693895	0.81[AMR][1000 genomes]
rs1698063	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17334377	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs175872	0.83[AMR][1000 genomes]
rs182190	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs185733	0.81[AMR][1000 genomes]
rs190692	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1961760	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059192	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059193	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059194	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059195	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2315519	0.84[ASN][1000 genomes]
rs2315534	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2432059	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2432060	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2454086	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2646639	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2652615	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276590	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276591	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276592	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276593	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276594	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276595	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276597	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276598	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276599	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs276600	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276601	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277939	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277940	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277942	0.80[AMR][1000 genomes]
rs277944	0.80[AMR][1000 genomes]
rs277945	0.81[AMR][1000 genomes]
rs277948	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277954	0.82[AMR][1000 genomes]
rs277957	0.81[AMR][1000 genomes]
rs277958	0.81[AMR][1000 genomes]
rs277960	0.81[AMR][1000 genomes]
rs277962	0.81[AMR][1000 genomes]
rs277963	0.81[AMR][1000 genomes]
rs277964	0.81[AMR][1000 genomes]
rs277965	0.81[AMR][1000 genomes]
rs277966	0.85[AMR][1000 genomes]
rs277967	0.83[AMR][1000 genomes]
rs277969	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277978	0.83[AMR][1000 genomes]
rs277979	0.81[AMR][1000 genomes]
rs277986	0.81[AMR][1000 genomes]
rs279290	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs279291	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs279322	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs279337	0.81[AMR][1000 genomes]
rs34029702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34117302	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35327154	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35420270	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35696325	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36036841	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761965	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761967	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs378585	0.81[AMR][1000 genomes]
rs384732	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3890749	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs392791	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs410776	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs418738	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4337836	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs439698	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441691	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4421086	0.85[ASN][1000 genomes]
rs4512120	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs451229	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs457908	0.81[AMR][1000 genomes]
rs458009	0.81[AMR][1000 genomes]
rs458150	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs458370	0.81[AMR][1000 genomes]
rs458534	0.82[ASN][1000 genomes]
rs459298	0.81[AMR][1000 genomes]
rs459787	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs460778	0.82[AMR][1000 genomes]
rs461215	0.81[AMR][1000 genomes]
rs462282	0.81[AMR][1000 genomes]
rs463871	0.81[AMR][1000 genomes]
rs464182	0.83[AMR][1000 genomes]
rs464594	0.81[AMR][1000 genomes]
rs464962	0.81[AMR][1000 genomes]
rs465073	0.81[AMR][1000 genomes]
rs466930	0.81[AMR][1000 genomes]
rs467160	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs467413	0.81[AMR][1000 genomes]
rs467563	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs467620	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs467851	0.81[AMR][1000 genomes]
rs467901	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468028	0.81[AMR][1000 genomes]
rs468033	0.81[AMR][1000 genomes]
rs468128	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468158	0.81[AMR][1000 genomes]
rs468446	0.81[AMR][1000 genomes]
rs468467	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs468564	0.81[AMR][1000 genomes]
rs468633	0.81[AMR][1000 genomes]
rs468658	0.81[AMR][1000 genomes]
rs468776	0.81[AMR][1000 genomes]
rs468832	0.81[AMR][1000 genomes]
rs469039	0.81[AMR][1000 genomes]
rs469369	0.81[AMR][1000 genomes]
rs469548	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4703986	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704049	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704096	0.81[AMR][1000 genomes]
rs541035	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs560394	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62361813	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62374360	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66528760	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6871754	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6881126	0.81[ASN][1000 genomes]
rs6885523	0.83[AMR][1000 genomes]
rs715748	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71624243	0.80[ASN][1000 genomes]
rs7442961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7443763	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447146	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7447545	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7448221	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7448990	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7702940	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7726336	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7732361	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737101	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791120	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs986217	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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
rs10942466	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	chr5:70753800-70763800	Strong transcription	HSMM	muscle
8	chr5:70754200-70769600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:70754400-70763200	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr5:70754400-70763200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr5:70754400-70763400	Strong transcription	A549	lung
13	chr5:70754400-70763400	Strong transcription	Osteobl	bone
14	chr5:70754400-70763600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:70754400-70763600	Strong transcription	Primary B cells from cord blood	blood
16	chr5:70754400-70763800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:70754400-70763800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:70754400-70763800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:70754400-70763800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:70754400-70764000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:70754400-70764600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:70754400-70764600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:70754400-70764800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:70754400-70765000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:70754400-70765400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:70754400-70767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:70754400-70767800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:70754400-70768400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:70754400-70768400	Strong transcription	Liver	Liver
30	chr5:70754400-70768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:70754400-70768600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:70754400-70768600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:70754400-70768600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:70754400-70769000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:70754400-70769200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:70754400-70769400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:70754400-70769600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:70754400-70770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:70754400-70772200	Strong transcription	Dnd41	blood
40	chr5:70754400-70773200	Strong transcription	Adipose Nuclei	Adipose
41	chr5:70754400-70773600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:70754400-70773800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:70754400-70774800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:70754400-70774800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:70754400-70774800	Strong transcription	Placenta	Placenta
46	chr5:70754400-70777800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:70754400-70778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:70754400-70795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine

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