Variant report

Variant	esv3468775
Chromosome Location	chr11:10292315-10294159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:10293851-10294053	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:10293859-10294109	A549	lung:	n/a	n/a
3	CEBPB	chr11:10293799-10294157	A549	lung:	n/a	n/a
4	CTCF	chr11:10293265-10293308	Kidney_OC	kidney:	n/a	n/a
5	FOS	chr11:10293822-10294052	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:10293895-10294012	MCF10A-Er-Src	breast:	n/a	n/a
7	HEY1	chr11:10293612-10293853	K562	blood:	n/a	n/a
8	HEY1	chr11:10293559-10293883	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:10293677-10293853	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:10293714-10293891	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:10293500-10293830	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:10293553-10293818	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:10293690-10293826	A549	lung:	n/a	n/a
14	POLR2A	chr11:10293474-10293821	Gliobla	brain:	n/a	n/a
15	POLR2A	chr11:10293695-10293833	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:10293476-10293888	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:10293559-10293825	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:10293508-10293828	K562	blood:	n/a	n/a
19	POLR2A	chr11:10293541-10293834	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:10293540-10293822	A549	lung:	n/a	n/a
21	POLR2A	chr11:10293559-10293821	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:10293694-10293840	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:10293713-10293809	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:10293528-10293830	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:10293667-10293861	A549	lung:	n/a	n/a
26	POLR2A	chr11:10293530-10294025	ProgFib	skin:	n/a	n/a
27	POLR2A	chr11:10293687-10293837	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:10293610-10293904	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:10293703-10293824	A549	lung:	n/a	n/a
30	POLR2A	chr11:10293677-10293845	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:10293654-10293827	A549	lung:	n/a	n/a
32	STAT3	chr11:10293874-10294074	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:10293837-10294090	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:10293763-10294039	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10293712..10297432-chr11:10324720..10326890,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254719	TF binding region
ENSG00000148926	chromatin interactions
ENSG00000254554	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573984409	chr11:10292365-10292366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112363006	chr11:10292426-10292427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369544329	chr11:10292440-10292441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183709117	chr11:10292473-10292474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11042712	chr11:10292477-10292478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs111329037	chr11:10292518-10292519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545650358	chr11:10292596-10292597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188461485	chr11:10292633-10292634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572519539	chr11:10292653-10292654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541714447	chr11:10292684-10292685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142398473	chr11:10292731-10292732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35931698	chr11:10292761-10292762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375984166	chr11:10292795-10292796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529687964	chr11:10292940-10292941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1802835	chr11:10293125-10293126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549344971	chr11:10293141-10293142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374709754	chr11:10293221-10293222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563079409	chr11:10293229-10293230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34616187	chr11:10293395-10293396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56007834	chr11:10293397-10293398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183767787	chr11:10293400-10293401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181226550	chr11:10293457-10293458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55841904	chr11:10293513-10293514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565873541	chr11:10293571-10293572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185541251	chr11:10293594-10293595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56331113	chr11:10293735-10293736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548507459	chr11:10293779-10293780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531543508	chr11:10293798-10293799	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568363161	chr11:10293816-10293817	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141834341	chr11:10293830-10293831	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188596120	chr11:10293831-10293832	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs551339564	chr11:10293832-10293833	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188688923	chr11:10293869-10293870	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs556583674	chr11:10293881-10293882	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs576471977	chr11:10293892-10293893	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs72850483	chr11:10293894-10293895	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs539145494	chr11:10293896-10293897	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558735573	chr11:10293921-10293922	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs373962670	chr11:10293925-10293926	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572610526	chr11:10293987-10293988	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541262275	chr11:10294006-10294007	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs565224138	chr11:10294016-10294017	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34051776	chr11:10294072-10294073	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs147119667	chr11:10294074-10294075	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566943836	chr11:10294106-10294107	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs562964250	chr11:10294117-10294118	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs531932545	chr11:10294137-10294138	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545890012	chr11:10294148-10294149	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10268600-10300000	Weak transcription	Fetal Intestine Small	intestine
2	chr11:10278200-10295200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:10278200-10309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:10279400-10296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:10281200-10295000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:10285400-10303400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:10287600-10306200	Weak transcription	Psoas Muscle	Psoas
9	chr11:10287800-10295400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:10288000-10295000	Weak transcription	Ovary	ovary
11	chr11:10288600-10294400	Weak transcription	Placenta	Placenta
12	chr11:10289200-10299200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:10289400-10299200	Weak transcription	Small Intestine	intestine
14	chr11:10290000-10313400	Weak transcription	Fetal Brain Male	brain
15	chr11:10290800-10309000	Weak transcription	HSMMtube	muscle
16	chr11:10291000-10293800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:10291000-10295000	Weak transcription	NHDF-Ad	bronchial
18	chr11:10291200-10293600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:10291200-10293600	Weak transcription	A549	lung
20	chr11:10291200-10293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:10291200-10293800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:10291200-10295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:10291200-10295000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:10291200-10313600	Weak transcription	NHEK	skin
25	chr11:10291200-10314400	Weak transcription	HSMM	muscle
26	chr11:10291400-10293600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10291400-10295200	Weak transcription	NHLF	lung
28	chr11:10291400-10295200	Weak transcription	Osteobl	bone
29	chr11:10291400-10296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:10291400-10296400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:10291400-10309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:10292200-10292400	Enhancers	Stomach Mucosa	stomach
33	chr11:10293600-10294000	Enhancers	A549	lung
34	chr11:10293600-10294200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:10293600-10294200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:10293800-10294000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:10293800-10294200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:10293800-10294200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:10293800-10294400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:10294000-10294200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr11:10294000-10294200	Enhancers	Brain Anterior Caudate	brain
42	chr11:10294000-10295000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:10294000-10295000	Weak transcription	A549	lung

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