Variant report

Variant	rs62509414
Chromosome Location	chr8:87372043-87372044
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	chr8:87365538..87368274-chr8:87371789..87373362,2	K562	blood:
2	chr8:87369968..87373352-chr8:87375250..87380185,4	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10089781	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10093379	0.81[EUR][1000 genomes]
rs10095129	0.80[EUR][1000 genomes]
rs10095537	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10096168	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10103691	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10107072	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956800	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956802	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956803	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11775728	0.95[ASN][1000 genomes]
rs11782512	0.82[EUR][1000 genomes]
rs11787036	0.95[ASN][1000 genomes]
rs11787318	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11997234	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12543856	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543887	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12544731	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17608598	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17608967	0.89[ASN][1000 genomes]
rs17681618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34895735	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4285463	0.86[ASN][1000 genomes]
rs4581032	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4961187	0.87[ASN][1000 genomes]
rs4961189	0.91[ASN][1000 genomes]
rs4961190	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5024450	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55727343	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55807259	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56039487	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56096624	0.92[ASN][1000 genomes]
rs56102132	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56122638	0.96[ASN][1000 genomes]
rs56268675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56395805	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57326273	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57644875	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62509419	0.99[ASN][1000 genomes]
rs62509421	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62510798	0.83[EUR][1000 genomes]
rs6471273	0.86[ASN][1000 genomes]
rs6471279	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471280	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6471281	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471345	0.81[EUR][1000 genomes]
rs6988601	0.80[EUR][1000 genomes]
rs6996052	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7006017	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015490	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017719	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71503461	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7460028	0.85[ASN][1000 genomes]
rs7460286	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461767	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7462727	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7819454	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7824469	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825405	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830128	0.99[ASN][1000 genomes]
rs7835743	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7838007	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9283961	0.85[ASN][1000 genomes]
rs9642913	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62509414	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
7	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
10	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
12	chr8:87359000-87383600	Weak transcription	Dnd41	blood
13	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:87362400-87378200	Weak transcription	Gastric	stomach
15	chr8:87363600-87372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:87364200-87372600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:87364200-87373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:87365000-87372600	Weak transcription	Right Ventricle	heart
21	chr8:87366000-87372600	Weak transcription	Small Intestine	intestine
22	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:87366400-87372600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
25	chr8:87367400-87375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:87368200-87379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
29	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
30	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:87368600-87374600	Weak transcription	NHEK	skin
32	chr8:87368600-87375400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:87369000-87372400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:87369000-87372400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:87369000-87372600	Weak transcription	Adipose Nuclei	Adipose
36	chr8:87369000-87373000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:87369000-87373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:87369000-87373800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:87369000-87378400	Weak transcription	Brain Angular Gyrus	brain
40	chr8:87369200-87373200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
42	chr8:87369400-87372800	Weak transcription	Primary T cells from cord blood	blood
43	chr8:87369400-87372800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:87369400-87373200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:87369400-87375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:87369400-87379200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:87369400-87379400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:87369400-87380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:87369600-87372600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:87369600-87384800	Weak transcription	A549	lung

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