Variant report

Variant	rs11774253
Chromosome Location	chr8:87492257-87492258
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	chr8:87489172-87495272	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:87490641-87493151	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87487964..87489806-chr8:87491396..87493548,2	K562	blood:
2	chr8:87485410..87488607-chr8:87490685..87493576,3	MCF-7	breast:
3	chr8:87485122..87487752-chr8:87491882..87495380,3	K562	blood:

Variant related genes	Relation type
CPNE3	TF binding region
RMDN1	TF binding region
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10086188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10089169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10089253	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089317	0.84[EUR][1000 genomes]
rs10090898	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10090963	0.85[ASN][1000 genomes]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10093867	0.82[EUR][1000 genomes]
rs10094332	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10097546	0.82[EUR][1000 genomes]
rs10097866	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098365	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10100182	0.94[ASN][1000 genomes]
rs10100247	0.85[ASN][1000 genomes]
rs10100254	0.91[ASN][1000 genomes]
rs10100368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10100698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10106390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10107117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10107571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10108586	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10109677	0.82[EUR][1000 genomes]
rs10110096	0.94[ASN][1000 genomes]
rs10110323	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481195	0.88[ASN][1000 genomes]
rs10504823	0.84[EUR][1000 genomes]
rs10956820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10956821	0.84[EUR][1000 genomes]
rs10956822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10956871	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11774499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11776698	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781993	0.82[EUR][1000 genomes]
rs11783382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984519	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986423	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11994508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11997927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998558	0.88[ASN][1000 genomes]
rs12155979	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12155981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12156004	0.83[EUR][1000 genomes]
rs12216783	0.84[EUR][1000 genomes]
rs12335013	0.85[EUR][1000 genomes]
rs12677915	0.86[CEU][hapmap]
rs13265266	0.81[EUR][1000 genomes]
rs1595207	0.91[CEU][hapmap]
rs16915375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16915389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17681534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17681826	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs2118070	0.84[CEU][hapmap]
rs28384362	0.88[EUR][1000 genomes]
rs28397606	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28416254	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28433311	0.83[EUR][1000 genomes]
rs28438974	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28504479	0.82[EUR][1000 genomes]
rs28514445	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28540009	0.85[ASN][1000 genomes]
rs28613262	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28680173	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28687116	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28715255	0.85[EUR][1000 genomes]
rs2917559	0.91[CEU][hapmap]
rs2953512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953523	0.92[CEU][hapmap]
rs2953524	0.91[CEU][hapmap]
rs2976176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976194	0.84[EUR][1000 genomes]
rs3087641	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4440616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4633041	0.92[CEU][hapmap]
rs55671538	0.83[EUR][1000 genomes]
rs55871514	0.87[EUR][1000 genomes]
rs57638937	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58837061	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471266	0.91[CEU][hapmap]
rs6471295	0.82[EUR][1000 genomes]
rs6471317	0.87[EUR][1000 genomes]
rs6651177	0.85[ASN][1000 genomes]
rs6651268	0.85[ASN][1000 genomes]
rs67332431	0.94[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6992624	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993497	0.87[EUR][1000 genomes]
rs6993612	0.85[EUR][1000 genomes]
rs7015772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7018083	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72690416	0.94[ASN][1000 genomes]
rs72690443	0.85[ASN][1000 genomes]
rs72690445	0.85[ASN][1000 genomes]
rs72690447	0.85[ASN][1000 genomes]
rs72690455	0.85[ASN][1000 genomes]
rs72690457	0.85[ASN][1000 genomes]
rs72690474	0.85[ASN][1000 genomes]
rs73688817	0.84[EUR][1000 genomes]
rs73688823	0.82[EUR][1000 genomes]
rs73688824	0.82[EUR][1000 genomes]
rs73688827	0.85[EUR][1000 genomes]
rs73688856	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73688857	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73688858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73688859	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73688862	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818436	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs7824873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833201	0.82[ASN][1000 genomes]
rs7837581	0.83[EUR][1000 genomes]
rs7839096	0.82[EUR][1000 genomes]
rs7843272	0.84[EUR][1000 genomes]
rs7843399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7844014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9297913	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9650128	0.85[ASN][1000 genomes]
rs9650129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	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
2	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
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11774253	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs11774253	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
10	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
13	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
17	chr8:87481800-87494200	Weak transcription	Gastric	stomach
18	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
19	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
22	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
23	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
24	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
26	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
27	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:87482200-87494200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
32	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:87482600-87494200	Weak transcription	K562	blood
34	chr8:87482600-87494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:87482600-87494800	Weak transcription	Lung	lung
36	chr8:87482800-87494000	Weak transcription	Fetal Stomach	stomach
37	chr8:87482800-87494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:87482800-87494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:87482800-87494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:87482800-87496400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
44	chr8:87483000-87494200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:87483200-87493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:87483200-87494000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:87483200-87494200	Weak transcription	Ovary	ovary
49	chr8:87483200-87505400	Weak transcription	Hela-S3	cervix
50	chr8:87483400-87494800	Weak transcription	Fetal Brain Female	brain

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