Variant report

Variant	rs11826896
Chromosome Location	chr11:73100232-73100233
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	REST	chr11:73099891-73100286	H1-hESC	embryonic stem cell:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
2	REST	chr11:73099787-73100419	ECC-1	luminal epithelium:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
3	CREB1	chr11:73100127-73100382	A549	lung:	n/a	n/a
4	REST	chr11:73099526-73100367	HL-60	blood:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
5	REST	chr11:73099824-73100342	HL-60	blood:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
6	POLR2A	chr11:73100164-73100761	GM12892	blood:	n/a	n/a
7	TFAP2C	chr11:73099581-73100815	Hela-S3	cervix:	n/a	n/a
8	EP300	chr11:73099539-73100754	ECC-1	luminal epithelium:	n/a	chr11:73100661-73100677 chr11:73100664-73100680 chr11:73100660-73100676
9	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
10	TEAD4	chr11:73100225-73100592	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:73099823-73100239	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr11:73100069-73100553	ECC-1	luminal epithelium:	n/a	chr11:73100274-73100284
13	POLR2A	chr11:73098540-73102525	A549	lung:	n/a	n/a
14	REST	chr11:73099617-73100287	PFSK-1	brain:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
15	TFAP2A	chr11:73099594-73100558	Hela-S3	cervix:	n/a	chr11:73099842-73099857 chr11:73100458-73100469 chr11:73099846-73099857 chr11:73099846-73099857 chr11:73100458-73100469 chr11:73099846-73099857 chr11:73099846-73099857
16	REST	chr11:73099980-73100237	Hela-S3	cervix:	n/a	chr11:73100113-73100126 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100097-73100106
17	POLR2A	chr11:73098107-73100258	HL-60	blood:	n/a	n/a
18	REST	chr11:73099891-73100272	H1-hESC	embryonic stem cell:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100097-73100106
19	REST	chr11:73099550-73100282	PFSK-1	brain:	n/a	chr11:73100113-73100126 chr11:73099663-73099681 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
20	MAX	chr11:73099362-73100560	A549	lung:	n/a	chr11:73099719-73099729
21	POLR2A	chr11:73100205-73103316	GM12892	blood:	n/a	n/a
22	ZBTB7A	chr11:73100113-73100663	ECC-1	luminal epithelium:	n/a	chr11:73100160-73100171
23	POLR2A	chr11:73100197-73101329	GM12892	blood:	n/a	n/a
24	CTCF	chr11:73100140-73100290	HCPEpiC	choroid plexus:	n/a	chr11:73100165-73100178 chr11:73100165-73100174
25	POLR2A	chr11:73100184-73100874	GM12878	blood:	n/a	n/a
26	REST	chr11:73099967-73100242	PANC-1	pancreas:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100097-73100106
27	REST	chr11:73099853-73100277	ECC-1	luminal epithelium:	n/a	chr11:73100113-73100126 chr11:73099976-73099989 chr11:73100044-73100052 chr11:73100087-73100105 chr11:73100260-73100273 chr11:73100097-73100106
28	CTCF	chr11:73100160-73100310	BJ	skin:	n/a	chr11:73100165-73100178 chr11:73100286-73100299 chr11:73100165-73100174
29	CTCF	chr11:73100220-73100370	HBMEC	blood vessel:	n/a	chr11:73100317-73100326 chr11:73100286-73100299 chr11:73100311-73100329

No.	Distal block	Cell Line	Cell type
1	chr11:72900219..72902837-chr11:73100123..73101971,2	MCF-7	breast:
2	chr11:73017324..73020653-chr11:73098598..73101937,4	MCF-7	breast:
3	chr11:73098600..73102285-chr11:73102322..73106479,4	MCF-7	breast:
4	chr11:73099755..73102272-chr11:73109128..73112969,3	K562	blood:
5	chr11:73044977..73046880-chr11:73100107..73101964,2	K562	blood:

Variant related genes	Relation type
RELT	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1002126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10047442	0.83[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
rs10793060	0.82[CEU][hapmap];0.94[GIH][hapmap];1.00[YRI][hapmap]
rs10898920	0.83[CEU][hapmap];0.96[YRI][hapmap]
rs10898925	0.96[YRI][hapmap]
rs11235729	0.86[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235743	0.81[CEU][hapmap]
rs11235745	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11235746	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs11235759	1.00[JPT][hapmap]
rs11235770	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11235775	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11235809	1.00[CHB][hapmap];0.85[CHD][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	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11824614	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];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];1.00[JPT][hapmap]
rs12276892	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12282282	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12282790	1.00[JPT][hapmap]
rs12285885	1.00[CHB][hapmap];0.85[CHD][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	0.83[CEU][hapmap];0.92[YRI][hapmap]
rs12421053	0.80[GIH][hapmap]
rs1894076	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1938777	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1939382	0.83[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
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	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2366780	0.82[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
rs28641751	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	0.83[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
rs3741149	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3825005	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs56801796	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6592521	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6592523	0.83[CEU][hapmap];0.88[YRI][hapmap]
rs7101831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102197	1.00[JPT][hapmap]
rs7113420	1.00[JPT][hapmap]
rs7114009	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];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	0.88[CEU][hapmap];0.82[YRI][hapmap]
rs7122560	0.86[ASN][1000 genomes]
rs7123298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7123985	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7125598	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7125978	1.00[JPT][hapmap]
rs7129990	1.00[CHB][hapmap]
rs7131383	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7131397	1.00[JPT][hapmap]
rs725103	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7342205	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7925573	0.83[CEU][hapmap];0.95[GIH][hapmap];0.96[YRI][hapmap]
rs7930880	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7934218	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7935204	0.82[CEU][hapmap];0.95[YRI][hapmap]
rs7935948	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7937066	0.96[ASN][1000 genomes]
rs7941359	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7944099	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7948630	0.83[CEU][hapmap];0.83[YRI][hapmap]
rs7950002	0.83[CEU][hapmap]
rs7951174	0.81[ASN][1000 genomes]
rs7952686	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[ASN][1000 genomes]
rs876480	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs880317	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]
rs947837	0.82[CHB][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
rs11826896	ANO1	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73088600-73100800	Enhancers	Placenta	Placenta
2	chr11:73089000-73100600	Enhancers	Fetal Muscle Leg	muscle
3	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
4	chr11:73090000-73101400	Enhancers	Adipose Nuclei	Adipose
5	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:73091600-73101600	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:73092600-73100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:73095000-73103400	Weak transcription	Gastric	stomach
9	chr11:73095200-73116200	Weak transcription	Liver	Liver
10	chr11:73095400-73103000	Weak transcription	NHLF	lung
11	chr11:73096000-73100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:73096200-73101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:73096600-73104400	Weak transcription	Fetal Brain Male	brain
15	chr11:73097000-73106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:73097200-73100800	Enhancers	HMEC	breast
17	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:73097400-73103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:73097400-73103600	Weak transcription	HepG2	liver
20	chr11:73097400-73103600	Weak transcription	Osteobl	bone
21	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:73097600-73104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
26	chr11:73097800-73100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:73097800-73104000	Weak transcription	Brain Germinal Matrix	brain
28	chr11:73098000-73100400	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:73098000-73101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:73098000-73102200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:73098000-73104200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:73098200-73100400	Enhancers	Lung	lung
33	chr11:73098200-73101200	Enhancers	Psoas Muscle	Psoas
34	chr11:73098400-73100400	Enhancers	Right Atrium	heart
35	chr11:73098400-73100600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr11:73098400-73101800	Weak transcription	Dnd41	blood
37	chr11:73098600-73100800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:73098600-73100800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:73098600-73100800	Genic enhancers	Spleen	Spleen
40	chr11:73098600-73101400	Genic enhancers	GM12878-XiMat	blood
41	chr11:73098600-73104600	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:73098800-73101400	Enhancers	HSMMtube	muscle
45	chr11:73098800-73104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:73098800-73105200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
48	chr11:73099000-73100400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:73099000-73100400	Flanking Active TSS	NHEK	skin
50	chr11:73099000-73100600	Enhancers	Esophagus	oesophagus

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