Variant report

Variant	rs62510798
Chromosome Location	chr8:87444566-87444567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87443836-87444591	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87443232..87446931-chr8:87452708..87455402,3	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10088389	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10088739	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10092164	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093238	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10093379	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095129	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096168	0.84[EUR][1000 genomes]
rs10096443	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10103691	0.84[EUR][1000 genomes]
rs10107072	0.84[EUR][1000 genomes]
rs10956800	0.84[EUR][1000 genomes]
rs10956802	0.84[EUR][1000 genomes]
rs10956803	0.84[EUR][1000 genomes]
rs10956853	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1142528	0.91[ASN][1000 genomes]
rs11775728	0.80[ASN][1000 genomes]
rs11782512	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11787318	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11997234	0.84[EUR][1000 genomes]
rs12543856	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12543887	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12544731	0.83[EUR][1000 genomes]
rs12546331	0.86[ASN][1000 genomes]
rs13251647	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17608598	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17608967	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17681618	0.84[EUR][1000 genomes]
rs3213911	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34895735	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3883910	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3903247	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4581032	0.84[EUR][1000 genomes]
rs4961190	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4961194	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4961196	0.86[ASN][1000 genomes]
rs5024450	0.84[EUR][1000 genomes]
rs55727343	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55807259	0.84[EUR][1000 genomes]
rs56039487	0.84[EUR][1000 genomes]
rs56096624	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56102132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56122533	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56268009	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56268675	0.82[EUR][1000 genomes]
rs56321721	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56365416	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56395805	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57326273	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57644875	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62509414	0.83[EUR][1000 genomes]
rs62509421	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62510845	0.82[EUR][1000 genomes]
rs6415565	0.86[ASN][1000 genomes]
rs6471279	0.83[EUR][1000 genomes]
rs6471281	0.84[EUR][1000 genomes]
rs6471345	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471349	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471351	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471352	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6471354	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981299	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988601	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994005	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6996052	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006017	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006629	0.85[ASN][1000 genomes]
rs7015490	0.83[EUR][1000 genomes]
rs7017719	0.84[EUR][1000 genomes]
rs7459811	0.85[ASN][1000 genomes]
rs7459897	0.86[ASN][1000 genomes]
rs7460251	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7460286	0.84[EUR][1000 genomes]
rs7460439	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461624	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7461767	0.84[EUR][1000 genomes]
rs7462727	0.84[EUR][1000 genomes]
rs7463186	0.85[ASN][1000 genomes]
rs7465350	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7817738	0.86[ASN][1000 genomes]
rs7818213	0.84[ASN][1000 genomes]
rs7819454	0.84[EUR][1000 genomes]
rs7820697	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822494	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824469	0.84[EUR][1000 genomes]
rs7825405	0.81[EUR][1000 genomes]
rs7835743	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9642913	0.80[ASN][1000 genomes]
rs9773093	0.86[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	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
2	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
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv3428747	chr8:87442061-87444609	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3441032	chr8:87442336-87444584	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62510798	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87426000-87446400	Weak transcription	K562	blood
2	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
3	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
6	chr8:87432600-87451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:87436400-87451800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:87436800-87451600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:87437200-87445600	Strong transcription	Fetal Intestine Large	intestine
11	chr8:87437200-87450400	Strong transcription	Dnd41	blood
12	chr8:87437400-87451400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:87437400-87451600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:87437400-87451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:87437400-87451800	Strong transcription	Fetal Lung	lung
16	chr8:87437400-87452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:87437400-87452600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:87437400-87453000	Strong transcription	Liver	Liver
19	chr8:87437400-87456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
21	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:87437400-87458200	Strong transcription	Placenta	Placenta
24	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:87437600-87448800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:87437600-87451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:87437600-87452000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:87438000-87451600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:87438000-87451800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:87438000-87457800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:87438600-87449400	Strong transcription	Left Ventricle	heart
33	chr8:87438600-87452600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:87438800-87445600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:87438800-87446200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:87439600-87454200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:87440600-87451800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:87440800-87450800	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:87440800-87451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:87441600-87445000	Weak transcription	Pancreas	Pancrea
41	chr8:87441600-87445200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:87441600-87446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:87442200-87454800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:87442600-87445200	Weak transcription	Esophagus	oesophagus
46	chr8:87442800-87444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:87442800-87444800	Weak transcription	Fetal Intestine Small	intestine
48	chr8:87442800-87449200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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