Variant report

Variant	esv3422966
Chromosome Location	chr11:10259931-10261408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10260654..10262324-chr11:10295566..10297220,2	MCF-7	breast:
2	chr11:10254716..10258095-chr11:10261173..10265097,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576491898	chr11:10259950-10259951	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543892079	chr11:10259984-10259985	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532307418	chr11:10260008-10260009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181010419	chr11:10260076-10260077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551733408	chr11:10260085-10260086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373978004	chr11:10260158-10260159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528402056	chr11:10260168-10260169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145549298	chr11:10260173-10260174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11042684	chr11:10260219-10260220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530120065	chr11:10260239-10260240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549866571	chr11:10260244-10260245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570166180	chr11:10260268-10260269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143580352	chr11:10260298-10260299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552844124	chr11:10260377-10260378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34228143	chr11:10260381-10260382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566262400	chr11:10260386-10260387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535035375	chr11:10260396-10260397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151009725	chr11:10260510-10260511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4910110	chr11:10260567-10260568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537061875	chr11:10260618-10260619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4910111	chr11:10260736-10260737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576579628	chr11:10260803-10260804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545475045	chr11:10260838-10260839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142311954	chr11:10260894-10260895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572721522	chr11:10260945-10260946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7110151	chr11:10260966-10260967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562023971	chr11:10260995-10260996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530669253	chr11:10261072-10261073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543845146	chr11:10261092-10261093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563663885	chr11:10261107-10261108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55856814	chr11:10261108-10261109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566015829	chr11:10261110-10261111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61889786	chr11:10261111-10261112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77889365	chr11:10261112-10261113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78681003	chr11:10261114-10261115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577421104	chr11:10261115-10261116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61889788	chr11:10261116-10261117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61889789	chr11:10261117-10261118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532688763	chr11:10261118-10261119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138339527	chr11:10261119-10261120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61889790	chr11:10261121-10261122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552682683	chr11:10261183-10261184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146343200	chr11:10261209-10261210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182236330	chr11:10261236-10261237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139067840	chr11:10261257-10261258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188073958	chr11:10261268-10261269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7124401	chr11:10261269-10261270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537343697	chr11:10261276-10261277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59705993	chr11:10261278-10261279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570089929	chr11:10261293-10261294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:10254000-10263400	Weak transcription	Ovary	ovary
5	chr11:10254000-10276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:10254400-10277400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:10254600-10265800	Weak transcription	Fetal Lung	lung
8	chr11:10254600-10268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:10255600-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:10255600-10261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:10255600-10268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:10255600-10277200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:10255600-10279000	Weak transcription	Small Intestine	intestine
16	chr11:10255800-10266200	Weak transcription	Osteobl	bone
17	chr11:10255800-10268400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:10255800-10277400	Weak transcription	HSMM	muscle
19	chr11:10256000-10261600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:10256000-10265600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:10256000-10270800	Weak transcription	NH-A	brain
22	chr11:10256200-10262000	Weak transcription	NHDF-Ad	bronchial
23	chr11:10256400-10268400	Weak transcription	NHLF	lung
24	chr11:10256600-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:10256600-10269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:10256800-10261800	Weak transcription	NHEK	skin
27	chr11:10257200-10261400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:10257800-10261200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:10257800-10266400	Weak transcription	Fetal Stomach	stomach
30	chr11:10257800-10269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:10258000-10266400	Weak transcription	Fetal Intestine Small	intestine
32	chr11:10258800-10261400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:10259000-10261600	Weak transcription	Hela-S3	cervix
34	chr11:10259000-10263400	Weak transcription	Adipose Nuclei	Adipose
35	chr11:10259000-10266400	Weak transcription	Right Ventricle	heart
36	chr11:10259000-10268400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:10259200-10266400	Weak transcription	Aorta	Aorta
38	chr11:10259200-10280200	Weak transcription	A549	lung
39	chr11:10259400-10260000	Enhancers	Left Ventricle	heart
40	chr11:10259400-10268200	Weak transcription	Lung	lung
41	chr11:10259600-10260000	Enhancers	Gastric	stomach
42	chr11:10259800-10260000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:10259800-10260000	Enhancers	Esophagus	oesophagus
44	chr11:10259800-10260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:10260000-10263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:10260000-10266400	Weak transcription	Gastric	stomach
47	chr11:10260000-10266400	Weak transcription	Left Ventricle	heart
48	chr11:10260000-10267800	Weak transcription	Esophagus	oesophagus
49	chr11:10260200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:10260200-10266400	Weak transcription	Pancreas	Pancrea

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