Variant report

Variant	esv3413728
Chromosome Location	chr11:10142664-10143228
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	chr11:10142764..10144683-chr11:10146496..10148132,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11042635	chr11:10142675-10142676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575960275	chr11:10142717-10142718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544940472	chr11:10142719-10142720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75038787	chr11:10142736-10142737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564848041	chr11:10142781-10142782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183839356	chr11:10142791-10142792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547497994	chr11:10142826-10142827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550136835	chr11:10142849-10142850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11042636	chr11:10142866-10142867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76351534	chr11:10142874-10142875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79630556	chr11:10142875-10142876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72860561	chr11:10142876-10142877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561540800	chr11:10142947-10142948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549848066	chr11:10142949-10142950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528643097	chr11:10143012-10143013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7110312	chr11:10143113-10143114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs531630253	chr11:10143132-10143133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187675125	chr11:10143145-10143146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139778297	chr11:10143156-10143157	Enhancers 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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
3	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:10126200-10143000	Weak transcription	Ovary	ovary
6	chr11:10131200-10144200	Weak transcription	Psoas Muscle	Psoas
7	chr11:10131400-10142800	Weak transcription	Fetal Brain Male	brain
8	chr11:10131800-10143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:10132200-10143000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:10136800-10143000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:10138400-10143000	Weak transcription	NHEK	skin
13	chr11:10139000-10144200	Enhancers	Hela-S3	cervix
14	chr11:10139800-10143400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:10139800-10144200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:10139800-10144400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:10140000-10143400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:10140000-10143400	Weak transcription	HMEC	breast
19	chr11:10140000-10143600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:10140000-10143800	Weak transcription	A549	lung
21	chr11:10140000-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:10140000-10144200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:10140000-10144200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:10140000-10144200	Weak transcription	HSMM	muscle
25	chr11:10140000-10144200	Weak transcription	NH-A	brain
26	chr11:10140000-10156200	Weak transcription	Fetal Lung	lung
27	chr11:10140600-10144000	Weak transcription	HSMMtube	muscle
28	chr11:10140800-10143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:10141200-10143600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:10141800-10143400	Weak transcription	Osteobl	bone
31	chr11:10141800-10144200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:10142000-10143400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:10142000-10143400	Weak transcription	NHLF	lung
34	chr11:10142600-10143600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:10142600-10144400	Enhancers	Adipose Nuclei	Adipose
36	chr11:10142600-10144800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:10142600-10145000	Enhancers	NHDF-Ad	bronchial
38	chr11:10142600-10145800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:10142800-10143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:10142800-10143000	Enhancers	Fetal Brain Male	brain
41	chr11:10142800-10143400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:10142800-10143600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:10142800-10143600	Enhancers	Fetal Brain Female	brain
44	chr11:10142800-10144400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:10142800-10145400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:10143000-10143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:10143000-10143200	Enhancers	Colon Smooth Muscle	Colon
48	chr11:10143000-10143400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:10143000-10144000	Enhancers	NHEK	skin
50	chr11:10143000-10144800	Enhancers	Ovary	ovary

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