Variant report

Variant	rs10088739
Chromosome Location	chr8:87451151-87451152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87440126..87442804-chr8:87449363..87451230,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10088389	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10092164	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10093238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093379	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095129	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10095498	0.82[JPT][hapmap]
rs10096168	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10096443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103691	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10956800	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10956853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1142528	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs11775728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11781016	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11782512	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11787318	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12543856	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12543887	0.81[ASN][1000 genomes]
rs12544731	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs12546331	0.88[CEU][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13042	0.82[JPT][hapmap]
rs13249753	0.82[JPT][hapmap]
rs13251647	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17608967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1946939	0.80[EUR][1000 genomes]
rs1946940	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs3213911	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs3883910	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4285463	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4484676	0.86[JPT][hapmap]
rs4587306	0.82[JPT][hapmap]
rs4961190	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4961193	0.82[JPT][hapmap]
rs4961194	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4961196	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5025329	0.86[JPT][hapmap]
rs55727343	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56096624	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56102132	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56365416	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56395805	0.81[ASN][1000 genomes]
rs57644875	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62510798	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6415565	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6471273	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6471280	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6471296	0.82[JPT][hapmap]
rs6471309	0.82[JPT][hapmap]
rs6471345	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471349	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471351	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471360	0.82[JPT][hapmap]
rs6981299	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983925	0.82[JPT][hapmap]
rs6988601	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994005	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs6996052	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6999022	0.81[ASN][1000 genomes]
rs6999654	0.85[JPT][hapmap]
rs7003059	0.82[JPT][hapmap]
rs7006017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006629	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7015263	0.81[ASN][1000 genomes]
rs7015490	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7017716	0.82[JPT][hapmap]
rs7017719	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7459811	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459897	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7460251	0.85[CEU][hapmap]
rs7460286	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7460439	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7461624	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs7463186	0.86[ASN][1000 genomes]
rs7465350	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs7465511	0.82[JPT][hapmap]
rs7817738	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818213	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7820697	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7822494	0.96[ASN][1000 genomes]
rs7823154	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7837569	0.82[JPT][hapmap]
rs9642913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs9773093	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10088739	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	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
2	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
5	chr8:87432600-87451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:87436400-87451800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:87436800-87451600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:87437400-87451400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:87437400-87451600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:87437400-87451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:87437400-87451800	Strong transcription	Fetal Lung	lung
13	chr8:87437400-87452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:87437400-87452600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:87437400-87453000	Strong transcription	Liver	Liver
16	chr8:87437400-87456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
18	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:87437400-87458200	Strong transcription	Placenta	Placenta
21	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:87437600-87451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:87437600-87452000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:87438000-87451600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:87438000-87451800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:87438000-87457800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:87438600-87452600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:87439600-87454200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:87440600-87451800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:87440800-87451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:87442200-87454800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:87443400-87451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:87443400-87452000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:87443400-87452200	Strong transcription	Adipose Nuclei	Adipose
39	chr8:87443400-87452800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:87443400-87455000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:87443400-87457800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:87443600-87451600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:87443600-87451800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:87443600-87452200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:87443600-87452200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:87443600-87452200	Strong transcription	Primary B cells from cord blood	blood
47	chr8:87443600-87452400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr8:87443600-87453800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:87443600-87453800	Strong transcription	HSMM	muscle
50	chr8:87443600-87454200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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