Variant report

Variant	rs12282282
Chromosome Location	chr11:73057013-73057014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73056183..73058229-chr11:73108925..73110683,2	MCF-7	breast:
2	chr11:73056959..73059891-chr11:73087127..73089515,3	MCF-7	breast:
3	chr11:73051469..73053504-chr11:73055523..73058425,3	MCF-7	breast:
4	chr11:73056150..73059125-chr11:73059660..73062281,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10047442	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs10793060	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs10898917	0.96[ASN][1000 genomes]
rs10898920	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs10898925	0.85[CHB][hapmap]
rs11235729	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235743	0.81[CEU][hapmap]
rs11235745	1.00[JPT][hapmap]
rs11235746	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11235759	1.00[JPT][hapmap]
rs11235770	0.82[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11820037	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11823913	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828904	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[JPT][hapmap]
rs12288753	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12293998	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938777	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1939382	0.83[CEU][hapmap]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2027763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298469	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366780	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs3741148	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs3741149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55771351	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.96[ASN][1000 genomes]
rs56397594	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.82[EUR][1000 genomes]
rs57592318	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592523	0.83[CEU][hapmap]
rs7101831	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.96[ASN][1000 genomes]
rs7113420	1.00[JPT][hapmap]
rs7114009	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7114376	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7115605	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs7122560	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123298	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7125598	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125978	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7129990	0.82[CHB][hapmap]
rs7131383	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925573	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs7930880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7933754	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7935204	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7935948	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7936102	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7952686	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs876480	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880317	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs947837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9888218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12282282	ANO1	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:73053400-73057200	Enhancers	Spleen	Spleen
8	chr11:73053800-73058200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:73053800-73058200	Weak transcription	Gastric	stomach
10	chr11:73053800-73064400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:73053800-73065800	Weak transcription	Fetal Kidney	kidney
12	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
13	chr11:73054400-73057200	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:73054400-73057600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:73054400-73058000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:73054400-73066600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:73054600-73057200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:73054600-73057800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:73054600-73058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:73054800-73057400	Weak transcription	Fetal Intestine Large	intestine
22	chr11:73054800-73058400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:73054800-73061800	Weak transcription	Pancreas	Pancrea
24	chr11:73054800-73062200	Weak transcription	Liver	Liver
25	chr11:73054800-73063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:73055000-73057600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:73055000-73058400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:73055000-73071000	Weak transcription	Esophagus	oesophagus
30	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:73055200-73057200	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:73055200-73058000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:73055200-73063800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:73055400-73057200	Enhancers	Right Ventricle	heart
36	chr11:73055400-73058200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:73055400-73058200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:73055400-73058200	Weak transcription	Fetal Lung	lung
39	chr11:73055600-73057200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:73055600-73057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:73055600-73058000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:73055800-73057200	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:73055800-73057800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:73055800-73057800	Weak transcription	Ovary	ovary
45	chr11:73055800-73058000	Weak transcription	Osteobl	bone
46	chr11:73055800-73058200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:73055800-73058400	Weak transcription	HSMMtube	muscle
48	chr11:73055800-73066800	Weak transcription	Colonic Mucosa	Colon
49	chr11:73055800-73068400	Weak transcription	NH-A	brain
50	chr11:73055800-73071800	Weak transcription	Brain Substantia Nigra	brain

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