Variant report

Variant	rs62361813
Chromosome Location	chr5:70894960-70894961
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	chr5:70881577..70886916-chr5:70891929..70900227,16	MCF-7	breast:
2	chr5:70893350..70895588-chr5:71051902..71053423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10942466	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10942683	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11740849	0.83[AMR][1000 genomes]
rs11742923	0.85[AMR][1000 genomes]
rs12110291	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12514575	0.83[AMR][1000 genomes]
rs12520417	0.87[AMR][1000 genomes]
rs12658383	0.83[AMR][1000 genomes]
rs13153636	0.83[AMR][1000 genomes]
rs13158264	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13165848	0.83[AMR][1000 genomes]
rs13168805	0.83[AMR][1000 genomes]
rs13175174	0.85[AMR][1000 genomes]
rs13185319	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13185743	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1423358	0.82[EUR][1000 genomes]
rs149114	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1559260	0.85[AMR][1000 genomes]
rs156754	0.87[AMR][1000 genomes]
rs156755	0.87[AMR][1000 genomes]
rs157044	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157045	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs157046	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166757	0.83[AMR][1000 genomes]
rs1693895	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1698063	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs172148	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17334377	0.83[AMR][1000 genomes]
rs175872	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs182190	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1833856	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs185733	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs188059	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs190692	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1961760	0.84[AMR][1000 genomes]
rs2059193	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2059194	0.83[AMR][1000 genomes]
rs2059195	0.85[AMR][1000 genomes]
rs2432059	0.85[AMR][1000 genomes]
rs2432060	0.85[AMR][1000 genomes]
rs2454086	0.85[AMR][1000 genomes]
rs2646639	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs276590	0.87[AMR][1000 genomes]
rs276591	0.87[AMR][1000 genomes]
rs276592	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs276593	0.81[AMR][1000 genomes]
rs276594	0.85[AMR][1000 genomes]
rs276597	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs276598	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276599	0.85[AMR][1000 genomes]
rs276600	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276601	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277939	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277940	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277942	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277944	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277945	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs277948	0.85[AMR][1000 genomes]
rs277954	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277957	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs277958	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs277960	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277961	0.86[AMR][1000 genomes]
rs277962	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs277963	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277964	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277965	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277966	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277967	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277978	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277979	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277980	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277981	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs277985	0.81[ASN][1000 genomes]
rs277986	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs277996	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277999	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs278000	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs278001	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs279290	0.85[AMR][1000 genomes]
rs279291	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs279322	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs279337	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34029702	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35327154	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35420270	0.85[AMR][1000 genomes]
rs35696325	0.83[AMR][1000 genomes]
rs36036841	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs375458	0.81[AMR][1000 genomes]
rs3761965	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3761967	0.85[AMR][1000 genomes]
rs378585	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384732	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3890749	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs392791	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs404692	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs410776	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs418738	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4337836	0.85[AMR][1000 genomes]
rs439698	0.85[AMR][1000 genomes]
rs441691	0.85[AMR][1000 genomes]
rs445771	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs451229	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457908	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs458009	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs458150	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs458370	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs458534	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs459298	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs459787	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs460778	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs461215	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs462282	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs463871	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs464155	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs464182	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs464594	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs464962	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs465073	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs466930	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467160	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs467381	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs467413	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs467563	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs467620	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs467851	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467901	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs468028	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468033	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs468128	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs468158	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468446	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468467	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468564	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468633	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468658	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468776	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs468832	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs469039	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs469142	0.80[EUR][1000 genomes]
rs469369	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs469379	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs469617	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4703986	0.83[AMR][1000 genomes]
rs4704049	0.85[AMR][1000 genomes]
rs4704096	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs541035	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs560394	0.85[AMR][1000 genomes]
rs62374360	0.83[AMR][1000 genomes]
rs6871754	0.85[AMR][1000 genomes]
rs6885523	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715748	0.85[AMR][1000 genomes]
rs7442961	0.83[AMR][1000 genomes]
rs7443763	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7444320	0.83[AMR][1000 genomes]
rs7447146	0.84[AMR][1000 genomes]
rs7447545	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7702940	0.85[AMR][1000 genomes]
rs7726336	0.85[AMR][1000 genomes]
rs7732361	0.82[EUR][1000 genomes]
rs7737101	0.85[AMR][1000 genomes]
rs9791120	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs986217	0.82[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62361813	BDP1	Cis_1M	lymphoblastoid	RTeQTL
rs62361813	RP11-195E2.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70883800-70895400	Weak transcription	HSMMtube	muscle
2	chr5:70883800-70896400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:70883800-70906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:70884000-70895400	Weak transcription	HSMM	muscle
6	chr5:70884000-70895400	Weak transcription	HUVEC	blood vessel
7	chr5:70884000-70896200	Weak transcription	Fetal Kidney	kidney
8	chr5:70884000-70896200	Weak transcription	NHDF-Ad	bronchial
9	chr5:70884000-70896200	Weak transcription	NHLF	lung
10	chr5:70884000-70900000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:70884600-70906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:70884800-70896400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:70884800-70896400	Weak transcription	Stomach Mucosa	stomach
14	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
15	chr5:70885200-70896400	Weak transcription	Fetal Heart	heart
16	chr5:70885200-70899600	Weak transcription	Brain Substantia Nigra	brain
17	chr5:70885400-70896600	Weak transcription	Psoas Muscle	Psoas
18	chr5:70885400-70896600	Weak transcription	K562	blood
19	chr5:70885400-70899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:70885800-70896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:70886200-70896600	Weak transcription	Small Intestine	intestine
22	chr5:70887000-70896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:70888400-70896000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:70888600-70900400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:70888600-70901000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:70888800-70896400	Strong transcription	Liver	Liver
27	chr5:70889000-70897000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:70889200-70895600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:70889600-70896200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:70889600-70896400	Strong transcription	Dnd41	blood
31	chr5:70889600-70896600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:70889800-70895600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:70889800-70900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:70890400-70900400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:70891400-70896200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:70891400-70897200	Strong transcription	Fetal Thymus	thymus
37	chr5:70891400-70900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:70891400-70900400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:70891400-70900400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:70892000-70895600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:70892000-70895800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr5:70892000-70896000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:70892000-70896000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:70892000-70896200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:70892000-70896200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:70892000-70896600	Strong transcription	Adipose Nuclei	Adipose
47	chr5:70892000-70896600	Strong transcription	Left Ventricle	heart
48	chr5:70892000-70896600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:70892000-70896600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:70892000-70896800	Strong transcription	Rectal Mucosa Donor 29	rectum

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