Variant report

Variant	rs10793060
Chromosome Location	chr11:73120653-73120654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73120640..73123438-chr11:73131254..73134143,3	MCF-7	breast:
2	chr11:73112531..73114097-chr11:73119091..73120983,2	MCF-7	breast:
3	chr11:73118962..73122327-chr11:73122703..73124989,4	K562	blood:
4	chr11:73118868..73120938-chr11:73124092..73125726,2	MCF-7	breast:
5	chr11:73111799..73116221-chr11:73117237..73120913,5	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1002126	0.86[CEU][hapmap]
rs10047442	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898925	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11235729	0.89[EUR][1000 genomes]
rs11235743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235746	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11820786	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11820929	1.00[CHB][hapmap]
rs11821094	0.85[CHB][hapmap]
rs11823923	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs11824614	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs11826896	0.82[CEU][hapmap];0.94[GIH][hapmap];1.00[YRI][hapmap]
rs11826909	0.82[CEU][hapmap];0.95[YRI][hapmap]
rs12275766	0.85[CHB][hapmap]
rs12276536	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12282282	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs12295744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12421053	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs1894076	0.85[CHB][hapmap]
rs1939382	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027761	0.85[CHB][hapmap]
rs2027763	0.85[CHB][hapmap]
rs2298807	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs2366780	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3741148	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[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741149	0.85[CHB][hapmap]
rs55751428	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56801796	0.87[EUR][1000 genomes]
rs6592521	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6592523	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7101831	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs7114009	0.88[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7119167	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7122560	0.88[EUR][1000 genomes]
rs7127171	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7129990	0.81[MKK][hapmap]
rs7131383	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs725103	0.85[CHB][hapmap]
rs7342205	0.85[CHB][hapmap]
rs73542998	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7925573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7930880	0.85[CHB][hapmap]
rs7935204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7937066	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7944099	0.85[CHB][hapmap]
rs7945596	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs7950002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952686	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs876480	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs880317	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]
rs947837	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10793060	ANO1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
7	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
8	chr11:73104800-73122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:73110600-73121600	Weak transcription	NHDF-Ad	bronchial
10	chr11:73110600-73123200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:73110800-73123000	Weak transcription	HUVEC	blood vessel
12	chr11:73110800-73123200	Weak transcription	NH-A	brain
13	chr11:73110800-73124000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:73111400-73123200	Strong transcription	Thymus	Thymus
15	chr11:73112800-73121200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:73112800-73123400	Strong transcription	Brain Germinal Matrix	brain
17	chr11:73113000-73126200	Weak transcription	Small Intestine	intestine
18	chr11:73113400-73125000	Weak transcription	Right Atrium	heart
19	chr11:73113600-73132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:73113800-73121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:73113800-73122800	Strong transcription	Fetal Intestine Small	intestine
22	chr11:73114600-73123000	Strong transcription	Fetal Thymus	thymus
23	chr11:73114600-73125200	Strong transcription	Primary T cells from cord blood	blood
24	chr11:73114800-73122800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73115000-73121200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:73115200-73126200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:73115200-73132200	Weak transcription	Fetal Heart	heart
28	chr11:73115200-73132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
30	chr11:73115400-73121400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:73115600-73122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:73115800-73120800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:73115800-73121000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:73115800-73121000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:73115800-73121000	Strong transcription	Aorta	Aorta
36	chr11:73115800-73121200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:73115800-73122200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:73115800-73122400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:73115800-73122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:73116000-73120800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:73116000-73121000	Strong transcription	Spleen	Spleen
42	chr11:73116000-73121200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:73116000-73123000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:73116000-73123000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:73116000-73123000	Strong transcription	Dnd41	blood
46	chr11:73116200-73120800	Strong transcription	Brain Angular Gyrus	brain
47	chr11:73116200-73120800	Strong transcription	Fetal Intestine Large	intestine
48	chr11:73116200-73121000	Strong transcription	Liver	Liver
49	chr11:73116200-73121000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:73116200-73121800	Strong transcription	Brain Anterior Caudate	brain

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