Variant report

Variant	rs876480
Chromosome Location	chr11:73086303-73086304
allele	C/T
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	MAZ	chr11:73086259-73089838	IMR90	lung:	n/a	chr11:73087703-73087713 chr11:73087762-73087771 chr11:73088614-73088624 chr11:73087622-73087632
2	CTCF	chr11:73086280-73086430	AoAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:
2	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
3	chr11:73085933..73089159-chr11:73107371..73110005,3	MCF-7	breast:
4	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
5	chr11:73072848..73076565-chr11:73085578..73089791,6	MCF-7	breast:
6	chr11:73075356..73077029-chr11:73086036..73087934,2	MCF-7	breast:

Variant related genes	Relation type
RELT	TF binding region
ENSG00000257038	Chromatin interaction
ENSG00000256928	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

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	0.86[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	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[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];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	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];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[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	0.90[AMR][1000 genomes];0.87[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];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276892	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12282282	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]
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	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295744	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs12421053	1.00[CHB][hapmap]
rs1894076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[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];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56397594	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57592318	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[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	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[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	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123298	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7123985	0.82[CHB][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	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[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];0.90[AMR][1000 genomes];0.87[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];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.88[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	0.88[AMR][1000 genomes];0.85[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	0.90[AMR][1000 genomes];0.88[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];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7950002	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs7952686	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs880317	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs947837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][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	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
4	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
5	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs876480	ANO1	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73062600-73087400	Weak transcription	Liver	Liver
3	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:73073200-73087000	Weak transcription	HMEC	breast
5	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:73076600-73086400	Weak transcription	Hela-S3	cervix
10	chr11:73077200-73086600	Weak transcription	A549	lung
11	chr11:73077200-73086800	Weak transcription	Pancreas	Pancrea
12	chr11:73077200-73087000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:73077200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:73077200-73087000	Weak transcription	Esophagus	oesophagus
15	chr11:73077200-73087000	Weak transcription	Fetal Kidney	kidney
16	chr11:73077600-73086600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:73077600-73086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:73077600-73086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:73077600-73086800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:73077600-73087000	Weak transcription	Fetal Brain Male	brain
21	chr11:73077600-73087000	Weak transcription	NH-A	brain
22	chr11:73077800-73086600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:73077800-73087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:73078400-73086600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:73079000-73086800	Weak transcription	Fetal Lung	lung
26	chr11:73079000-73087000	Weak transcription	Left Ventricle	heart
27	chr11:73079000-73087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:73079200-73086800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:73079400-73086600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:73079400-73087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:73079600-73086600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:73079800-73086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:73079800-73087000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:73080000-73087000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:73080000-73087400	Weak transcription	Ovary	ovary
36	chr11:73080400-73086800	Weak transcription	NHDF-Ad	bronchial
37	chr11:73080400-73087400	Weak transcription	Aorta	Aorta
38	chr11:73080600-73087400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:73080800-73086600	Weak transcription	Gastric	stomach
40	chr11:73080800-73087000	Weak transcription	HSMM	muscle
41	chr11:73080800-73087000	Weak transcription	HSMMtube	muscle
42	chr11:73081000-73086600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73081000-73086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:73081000-73086600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:73081000-73087000	Weak transcription	Brain Germinal Matrix	brain
46	chr11:73081000-73087000	Weak transcription	Fetal Brain Female	brain
47	chr11:73081000-73087000	Weak transcription	NHLF	lung
48	chr11:73081000-73087400	Weak transcription	Lung	lung
49	chr11:73081200-73086800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:73081200-73087000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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