Variant report

Variant	rs10092164
Chromosome Location	chr8:87453030-87453031
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	SETDB1	chr8:87452541-87453218	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
WWP1	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10088389	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10088739	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10093238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093379	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095129	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956853	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1142528	0.93[ASN][1000 genomes]
rs11781016	0.80[ASN][1000 genomes]
rs11782512	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12543887	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12546331	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13251647	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17608967	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1946939	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1946940	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34895735	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3883910	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4961190	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4961194	0.87[ASN][1000 genomes]
rs4961196	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55727343	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56096624	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56102132	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56268009	0.83[AMR][1000 genomes]
rs56365416	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56395805	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57644875	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62510798	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6415565	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471345	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471349	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471351	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471352	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471354	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6981299	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988601	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994005	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6996052	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6999022	0.81[ASN][1000 genomes]
rs7006017	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7006629	0.87[ASN][1000 genomes]
rs7015263	0.81[ASN][1000 genomes]
rs7459811	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7459897	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7460251	0.83[AMR][1000 genomes]
rs7460439	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7463186	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7817738	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818213	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7820697	0.86[ASN][1000 genomes]
rs7822494	0.96[ASN][1000 genomes]
rs9773093	0.81[EUR][1000 genomes];0.88[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
rs10092164	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	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
4	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr8:87437400-87456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
7	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:87437400-87458200	Strong transcription	Placenta	Placenta
10	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:87438000-87457800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr8:87439600-87454200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:87442200-87454800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:87443400-87455000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:87443400-87457800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:87443600-87453800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:87443600-87453800	Strong transcription	HSMM	muscle
22	chr8:87443600-87454200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:87443600-87457600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:87443600-87458200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:87443600-87458200	Strong transcription	HepG2	liver
26	chr8:87443600-87459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:87443800-87454000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:87443800-87454200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:87443800-87455000	Strong transcription	Fetal Kidney	kidney
30	chr8:87444400-87488800	Weak transcription	NHLF	lung
31	chr8:87445800-87461000	Weak transcription	Small Intestine	intestine
32	chr8:87446200-87454200	Strong transcription	NH-A	brain
33	chr8:87446200-87454400	Strong transcription	Osteobl	bone
34	chr8:87446800-87458200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:87446800-87458600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:87447200-87461000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:87447200-87476800	Weak transcription	Gastric	stomach
38	chr8:87447200-87476800	Weak transcription	Spleen	Spleen
39	chr8:87447600-87453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:87447600-87458000	Strong transcription	Fetal Intestine Large	intestine
41	chr8:87448200-87457200	Weak transcription	Esophagus	oesophagus
42	chr8:87448200-87460800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:87448400-87453200	Weak transcription	NHEK	skin
44	chr8:87448400-87456000	Weak transcription	Thymus	Thymus
45	chr8:87448400-87460600	Weak transcription	Hela-S3	cervix
46	chr8:87448400-87476800	Weak transcription	Aorta	Aorta
47	chr8:87448600-87453800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr8:87448800-87453400	Weak transcription	HMEC	breast
49	chr8:87448800-87456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:87448800-87457200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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