Variant report

Variant	rs880317
Chromosome Location	chr11:73108276-73108277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73102033-73111863	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:73108217-73108609	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:73108010-73108484	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:73108255-73108421	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73105208-73111038	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73108100-73108469	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:73103307-73110889	A549	lung:	n/a	n/a
9	POLR2A	chr11:73108052-73111038	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:73108087-73108486	K562	blood:	n/a	n/a
11	POLR2A	chr11:73103462-73108498	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:73108093-73108384	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:73103211-73111119	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:73108012-73111145	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:73108214-73108286	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:73108170-73108277	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:73108255-73108486	K562	blood:	n/a	n/a
18	POLR2A	chr11:73107978-73111022	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:73103383-73111849	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:73108169-73108444	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:73104518-73108453	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:73108071-73108378	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73086082..73087972-chr11:73107686..73109546,2	K562	blood:
2	chr11:73086514..73088378-chr11:73107613..73109231,2	MCF-7	breast:
3	chr11:73085933..73089159-chr11:73107371..73110005,3	MCF-7	breast:
4	chr11:73108125..73109884-chr11:73115206..73117762,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256928	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000256448	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1002126	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10047442	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10793060	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10898920	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10898925	0.82[ASW][hapmap];0.83[CEU][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs11235729	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235743	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11235745	1.00[JPT][hapmap]
rs11235746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235759	1.00[JPT][hapmap]
rs11235770	1.00[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11235809	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11820929	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11821094	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11824614	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11826896	0.82[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs11826909	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs11828904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs12276892	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12282282	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12282790	1.00[JPT][hapmap]
rs12285885	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12288753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12290623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12290835	1.00[JPT][hapmap]
rs12295744	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs12421053	0.94[CEU][hapmap];0.85[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs1894076	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1938777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1939382	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2027761	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2027763	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298807	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2366780	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs28641751	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3741149	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55751428	0.85[EUR][1000 genomes]
rs56801796	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592521	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6592523	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7101831	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs7102197	1.00[JPT][hapmap]
rs7113420	1.00[JPT][hapmap]
rs7114009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7114376	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7118982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7119167	0.93[CEU][hapmap];0.87[YRI][hapmap]
rs7122560	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7123985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7125598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7125978	1.00[JPT][hapmap]
rs7127171	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7129990	1.00[CHB][hapmap]
rs7131383	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7131397	1.00[JPT][hapmap]
rs725103	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7342205	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs73542998	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7925573	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7930880	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7934218	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7935204	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7935948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7937066	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941359	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7944346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7945596	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7948630	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs7950002	1.00[CEU][hapmap]
rs7951174	0.81[ASN][1000 genomes]
rs7952686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876480	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs947837	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs9888218	1.00[JPT][hapmap]

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	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
2	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
3	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
rs880317	ANO1	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
6	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
9	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:73099400-73109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
16	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
17	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:73100400-73109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:73100400-73109800	Weak transcription	Right Atrium	heart
21	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:73100800-73109800	Weak transcription	HSMM	muscle
23	chr11:73100800-73115800	Weak transcription	HMEC	breast
24	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
27	chr11:73101400-73110400	Strong transcription	GM12878-XiMat	blood
28	chr11:73101400-73112600	Weak transcription	HSMMtube	muscle
29	chr11:73101800-73110000	Strong transcription	Thymus	Thymus
30	chr11:73101800-73110200	Strong transcription	Dnd41	blood
31	chr11:73103200-73108800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:73103600-73109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
34	chr11:73103800-73109400	Strong transcription	Fetal Thymus	thymus
35	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:73104000-73109400	Weak transcription	Right Ventricle	heart
37	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
38	chr11:73104400-73109800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:73104400-73111000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:73104600-73109200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:73104600-73109800	Strong transcription	Spleen	Spleen
42	chr11:73104600-73110000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:73104600-73110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:73104600-73110400	Strong transcription	NHEK	skin
45	chr11:73104600-73112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:73104600-73113200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:73104600-73113200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:73104600-73114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
50	chr11:73104800-73108400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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