Variant report

Variant	rs12155981
Chromosome Location	chr8:87434132-87434133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87424501..87430232-chr8:87432301..87437482,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:123)

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];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10089253	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10089317	0.94[EUR][1000 genomes]
rs10090898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10093867	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10094332	0.84[EUR][1000 genomes]
rs10095589	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10097546	0.92[EUR][1000 genomes]
rs10097866	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098365	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10100182	0.87[ASN][1000 genomes]
rs10100254	0.84[ASN][1000 genomes]
rs10100368	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10100698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[EUR][1000 genomes]
rs10106390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107571	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10108586	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109677	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10110096	0.87[ASN][1000 genomes]
rs10110323	0.90[EUR][1000 genomes]
rs10481195	0.93[ASN][1000 genomes]
rs10504823	0.94[EUR][1000 genomes]
rs10956820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956821	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956871	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs11774253	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]
rs11774499	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs11776698	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11783382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11984519	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11986423	0.96[GIH][hapmap];0.88[EUR][1000 genomes]
rs11994508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11997927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11998558	0.93[ASN][1000 genomes]
rs12155979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12156004	0.93[EUR][1000 genomes]
rs12216783	0.94[EUR][1000 genomes]
rs12335013	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12677915	0.84[CEU][hapmap]
rs13265266	0.91[EUR][1000 genomes]
rs1595207	0.91[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap]
rs16915375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16915389	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17681534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs17681826	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2118070	0.82[CEU][hapmap]
rs28384362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28397606	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28416254	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28433311	0.93[EUR][1000 genomes]
rs28438974	0.90[EUR][1000 genomes]
rs28504479	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28514445	0.86[EUR][1000 genomes]
rs28613262	0.87[EUR][1000 genomes]
rs28680173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28687116	0.88[EUR][1000 genomes]
rs28715255	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2917553	0.90[EUR][1000 genomes]
rs2917559	0.91[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs2953512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2953514	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2953515	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2953518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs2953519	0.90[EUR][1000 genomes]
rs2953520	0.83[EUR][1000 genomes]
rs2953521	0.87[EUR][1000 genomes]
rs2953523	0.91[CEU][hapmap]
rs2953524	0.91[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs2954348	0.91[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs2976170	0.90[EUR][1000 genomes]
rs2976173	0.90[EUR][1000 genomes]
rs2976174	0.89[EUR][1000 genomes]
rs2976175	0.90[EUR][1000 genomes]
rs2976176	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2976180	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2976194	0.94[EUR][1000 genomes]
rs2976200	0.84[CEU][hapmap]
rs3087641	0.82[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4370511	0.82[EUR][1000 genomes]
rs4440616	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633041	0.91[CEU][hapmap]
rs55671538	0.93[EUR][1000 genomes]
rs55871514	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57638937	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58837061	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471266	0.91[CEU][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs6471295	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6471317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67332431	0.87[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6992624	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993497	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6993612	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7015772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7018083	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs72690416	0.87[ASN][1000 genomes]
rs73688817	0.94[EUR][1000 genomes]
rs73688823	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73688824	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73688827	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73688856	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73688857	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73688858	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73688859	0.90[EUR][1000 genomes]
rs73688862	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7818436	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823951	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7824873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7837581	0.93[EUR][1000 genomes]
rs7837618	0.87[EUR][1000 genomes]
rs7839096	0.92[EUR][1000 genomes]
rs7843272	0.94[EUR][1000 genomes]
rs7843399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297913	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9656823	0.89[EUR][1000 genomes]
rs9656824	0.89[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12155981	DECR1	cis	parietal	SCAN
rs12155981	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs12155981	CPNE3	cis	cerebellum	SCAN
rs12155981	CPNE3	cis	parietal	SCAN
rs12155981	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
4	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
5	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:87405400-87443600	Weak transcription	NHLF	lung
7	chr8:87406800-87437400	Weak transcription	HSMM	muscle
8	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
10	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
11	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:87426000-87446400	Weak transcription	K562	blood
17	chr8:87426400-87438400	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:87426800-87437200	Weak transcription	Hela-S3	cervix
19	chr8:87426800-87437600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:87426800-87437600	Weak transcription	NH-A	brain
21	chr8:87426800-87440800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:87427000-87437400	Weak transcription	HUVEC	blood vessel
23	chr8:87427200-87435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:87427400-87437400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
26	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:87429400-87437600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:87429400-87438600	Weak transcription	Left Ventricle	heart
31	chr8:87429400-87440800	Weak transcription	Aorta	Aorta
32	chr8:87429400-87441200	Weak transcription	Gastric	stomach
33	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
35	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
36	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
37	chr8:87429600-87438200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:87429600-87440000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:87429600-87440800	Weak transcription	Pancreas	Pancrea
40	chr8:87429800-87437400	Weak transcription	Fetal Heart	heart
41	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:87430000-87440800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:87430200-87440800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:87430400-87435000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:87430600-87435200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:87430600-87435200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr8:87430800-87434400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr8:87430800-87437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:87431000-87438000	Weak transcription	Stomach Smooth Muscle	stomach

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