Variant report

Variant	rs7015772
Chromosome Location	chr8:87382171-87382172
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	TCF12	chr8:87381851-87382333	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87353210..87357082-chr8:87378736..87382239,4	MCF-7	breast:
2	chr8:87354025..87356247-chr8:87379465..87382514,4	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000123124	Chromatin interaction
ENSG00000254231	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10086188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10089169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10089253	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10089317	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10090898	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10093867	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10097546	0.91[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]
rs10098365	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10100368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10100698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106855	0.93[ASN][1000 genomes]
rs10107117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107571	1.00[CHB][hapmap];1.00[JPT][hapmap]
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	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956821	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956871	1.00[CHB][hapmap]
rs11774253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11774499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11776698	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781993	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11997927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12156004	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216783	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677915	0.86[CEU][hapmap]
rs13265266	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595207	0.91[CEU][hapmap]
rs16915375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16915389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17681534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681826	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2118070	0.84[CEU][hapmap]
rs28384362	0.88[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	0.83[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	0.91[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	0.91[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]
rs2917559	0.91[CEU][hapmap]
rs2953507	0.90[ASN][1000 genomes]
rs2953508	0.90[ASN][1000 genomes]
rs2953512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs2953523	0.92[CEU][hapmap]
rs2953524	0.91[CEU][hapmap]
rs2954348	0.91[CEU][hapmap];1.00[JPT][hapmap]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976192	0.84[ASN][1000 genomes]
rs2976194	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]
rs2976200	0.84[CEU][hapmap]
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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4633041	0.92[CEU][hapmap]
rs55671538	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871514	0.97[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]
rs6471266	0.91[CEU][hapmap]
rs6471284	0.90[ASN][1000 genomes]
rs6471295	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6992624	0.81[AMR][1000 genomes]
rs6993497	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018083	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs73262925	0.90[ASN][1000 genomes]
rs73262927	0.90[ASN][1000 genomes]
rs73688817	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688823	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688824	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688827	0.91[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]
rs7823951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7837581	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839096	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843272	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7846468	0.90[ASN][1000 genomes]
rs9297913	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9650129	1.00[CHB][hapmap];1.00[JPT][hapmap]
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
rs7015772	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL
rs7015772	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
7	chr8:87359000-87383600	Weak transcription	Dnd41	blood
8	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
12	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
15	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
16	chr8:87369600-87384800	Weak transcription	A549	lung
17	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
18	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:87373800-87385000	Weak transcription	HepG2	liver
21	chr8:87374200-87384600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:87374800-87387000	Weak transcription	Ovary	ovary
23	chr8:87375000-87387000	Weak transcription	NHEK	skin
24	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:87375800-87384600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:87375800-87384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:87377200-87385800	Weak transcription	NH-A	brain
31	chr8:87377400-87384000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:87378200-87386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:87378400-87386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:87378600-87382800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:87378600-87383600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:87378600-87386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:87378600-87387000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:87378600-87387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:87378600-87402200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:87378600-87402200	Weak transcription	Spleen	Spleen
41	chr8:87378800-87403800	Weak transcription	Psoas Muscle	Psoas
42	chr8:87379000-87387800	Weak transcription	Left Ventricle	heart
43	chr8:87379600-87384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
45	chr8:87379800-87383000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:87379800-87384600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:87379800-87387600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:87379800-87392800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:87379800-87403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:87380000-87383600	Weak transcription	Fetal Thymus	thymus

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