Variant report

Variant	rs62509421
Chromosome Location	chr8:87379496-87379497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87378503..87381447-chr8:87404870..87407251,2	K562	blood:
2	chr8:87369968..87373352-chr8:87375250..87380185,4	MCF-7	breast:
3	chr8:87353210..87357082-chr8:87378736..87382239,4	MCF-7	breast:
4	chr8:87354025..87356247-chr8:87379465..87382514,4	MCF-7	breast:
5	chr8:87373696..87376547-chr8:87378269..87380043,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction
ENSG00000254231	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10088389	0.80[AMR][1000 genomes]
rs10089781	0.86[ASN][1000 genomes]
rs10093379	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10095129	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10095537	0.87[ASN][1000 genomes]
rs10096168	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10103691	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107072	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956800	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956802	0.96[EUR][1000 genomes]
rs10956803	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11775728	0.98[ASN][1000 genomes]
rs11782512	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11787036	0.92[ASN][1000 genomes]
rs11787318	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997234	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12543856	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543887	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544731	0.96[EUR][1000 genomes]
rs13251647	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17608598	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17608967	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17681618	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34895735	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3883910	0.80[AMR][1000 genomes]
rs4285463	0.83[ASN][1000 genomes]
rs4581032	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4961187	0.84[ASN][1000 genomes]
rs4961189	0.94[ASN][1000 genomes]
rs4961190	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5024450	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55727343	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55807259	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56039487	0.97[EUR][1000 genomes]
rs56096624	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56102132	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56122638	0.99[ASN][1000 genomes]
rs56268675	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56395805	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57326273	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57644875	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62509414	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62509419	0.96[ASN][1000 genomes]
rs62510798	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471273	0.83[ASN][1000 genomes]
rs6471279	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471280	0.86[ASN][1000 genomes]
rs6471281	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471345	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471349	0.80[AMR][1000 genomes]
rs6471354	0.82[AMR][1000 genomes]
rs6981299	0.80[AMR][1000 genomes]
rs6988601	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6996052	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7006017	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015490	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7017719	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71503461	0.82[EUR][1000 genomes]
rs7460028	0.82[ASN][1000 genomes]
rs7460286	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7460439	0.80[AMR][1000 genomes]
rs7461767	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7462727	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819454	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7824469	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825405	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7830128	0.96[ASN][1000 genomes]
rs7835743	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7838007	0.83[ASN][1000 genomes]
rs9283961	0.82[ASN][1000 genomes]
rs9642913	0.98[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
rs62509421	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 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	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
7	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
9	chr8:87359000-87383600	Weak transcription	Dnd41	blood
10	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
14	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:87368200-87379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
18	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:87369400-87380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:87369600-87384800	Weak transcription	A549	lung
22	chr8:87369800-87381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
24	chr8:87370600-87380400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:87371000-87381400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:87371000-87381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:87371400-87381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:87371600-87381000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:87373400-87381000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:87373800-87379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:87373800-87385000	Weak transcription	HepG2	liver
34	chr8:87374000-87380000	Weak transcription	HMEC	breast
35	chr8:87374200-87384600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:87374800-87387000	Weak transcription	Ovary	ovary
37	chr8:87375000-87387000	Weak transcription	NHEK	skin
38	chr8:87375400-87379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:87375600-87380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:87375800-87384600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:87375800-87384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:87376600-87380800	Enhancers	Liver	Liver
46	chr8:87377000-87379800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:87377200-87385800	Weak transcription	NH-A	brain
49	chr8:87377400-87380400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:87377400-87384000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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