Variant report

Variant	rs6993612
Chromosome Location	chr8:87385040-87385041
allele	A/C
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	chr8:87385004-87385544	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87384772..87387362-chr8:87392342..87394436,2	K562	blood:

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

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10089169	0.85[EUR][1000 genomes]
rs10089253	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10089317	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10090898	0.85[EUR][1000 genomes]
rs10093867	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097546	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10100698	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106855	0.93[ASN][1000 genomes]
rs10108586	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109032	0.91[ASN][1000 genomes]
rs10109677	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10110323	0.85[EUR][1000 genomes]
rs10113158	0.90[ASN][1000 genomes]
rs10481195	0.81[ASN][1000 genomes]
rs10504823	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956820	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956821	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956822	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774253	0.85[EUR][1000 genomes]
rs11776698	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781993	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783382	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11984519	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11986423	0.84[EUR][1000 genomes]
rs11994508	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11997927	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11998558	0.81[ASN][1000 genomes]
rs12155979	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12155981	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12156004	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216783	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265266	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681534	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28384362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28397606	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28416254	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28433311	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28438974	0.85[EUR][1000 genomes]
rs28445847	0.90[ASN][1000 genomes]
rs28504479	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514445	0.81[EUR][1000 genomes]
rs28613262	0.83[EUR][1000 genomes]
rs28680173	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28687116	0.84[EUR][1000 genomes]
rs28715255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28783474	0.90[ASN][1000 genomes]
rs2917553	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953507	0.90[ASN][1000 genomes]
rs2953508	0.90[ASN][1000 genomes]
rs2953512	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953514	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953515	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953518	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953519	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953520	0.84[EUR][1000 genomes]
rs2953521	0.88[EUR][1000 genomes]
rs2976170	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976173	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976174	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976175	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976176	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976180	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976192	0.84[ASN][1000 genomes]
rs2976194	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976195	0.87[ASN][1000 genomes]
rs2976196	0.87[ASN][1000 genomes]
rs2976199	0.87[ASN][1000 genomes]
rs2976202	0.90[ASN][1000 genomes]
rs3087641	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4370511	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4440616	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55671538	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57638937	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58837061	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471284	0.90[ASN][1000 genomes]
rs6471295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992624	0.81[AMR][1000 genomes]
rs6993497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262925	0.90[ASN][1000 genomes]
rs73262927	0.90[ASN][1000 genomes]
rs73688817	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688823	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688824	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.84[EUR][1000 genomes]
rs73688857	0.84[EUR][1000 genomes]
rs73688858	0.85[EUR][1000 genomes]
rs73688859	0.85[EUR][1000 genomes]
rs73688862	0.85[EUR][1000 genomes]
rs7815489	0.90[ASN][1000 genomes]
rs7818436	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7824873	0.81[EUR][1000 genomes]
rs7837581	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837618	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839096	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843272	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843399	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846468	0.90[ASN][1000 genomes]
rs9297913	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9656823	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656824	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6993612	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL
rs6993612	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

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	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
5	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
9	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
10	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:87374800-87387000	Weak transcription	Ovary	ovary
13	chr8:87375000-87387000	Weak transcription	NHEK	skin
14	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:87377200-87385800	Weak transcription	NH-A	brain
19	chr8:87378200-87386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:87378400-87386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:87378600-87386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:87378600-87387000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:87378600-87387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:87378600-87402200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:87378600-87402200	Weak transcription	Spleen	Spleen
26	chr8:87378800-87403800	Weak transcription	Psoas Muscle	Psoas
27	chr8:87379000-87387800	Weak transcription	Left Ventricle	heart
28	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
29	chr8:87379800-87387600	Weak transcription	Brain Angular Gyrus	brain
30	chr8:87379800-87392800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:87379800-87403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:87380200-87387800	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:87380200-87387800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:87380400-87385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:87380400-87386000	Weak transcription	HMEC	breast
36	chr8:87380400-87401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:87380600-87387400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:87380800-87403600	Weak transcription	Stomach Mucosa	stomach
39	chr8:87381000-87386600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:87381000-87398800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:87381000-87403600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:87381000-87404000	Weak transcription	Small Intestine	intestine
43	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:87381200-87397600	Weak transcription	Fetal Heart	heart
45	chr8:87381200-87425600	Weak transcription	K562	blood
46	chr8:87381400-87385600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:87381400-87386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:87381600-87386600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:87381600-87389800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:87381600-87395600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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