Variant report

Variant	esv1830284
Chromosome Location	chr11:6117526-6121550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4758385	chr11:6117526-6117527	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571916838	chr11:6117557-6117558	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs535907633	chr11:6117656-6117657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs113764173	chr11:6117658-6117659	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs149632270	chr11:6117659-6117660	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs369731046	chr11:6117672-6117673	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs113836384	chr11:6117690-6117691	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs148805285	chr11:6117697-6117698	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs578261356	chr11:6117705-6117706	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs189918725	chr11:6117730-6117731	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs560629705	chr11:6117755-6117756	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs144809275	chr11:6117785-6117786	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs549429663	chr11:6117804-6117805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561257148	chr11:6117828-6117829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376867559	chr11:6117837-6117838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147521159	chr11:6117882-6117883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573315751	chr11:6117914-6117915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556651602	chr11:6117964-6117965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571206664	chr11:6117972-6117973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111291641	chr11:6117973-6117974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4758386	chr11:6117976-6117977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs180721137	chr11:6117982-6117983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565508143	chr11:6118094-6118095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10839489	chr11:6118097-6118098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576158250	chr11:6118107-6118108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368276411	chr11:6118109-6118110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144530348	chr11:6118120-6118121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139976160	chr11:6118200-6118201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187200272	chr11:6118226-6118227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145452354	chr11:6118244-6118245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10839491	chr11:6118252-6118253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545683212	chr11:6118253-6118254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561363021	chr11:6118254-6118255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74055121	chr11:6118260-6118261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542889890	chr11:6118281-6118282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151025954	chr11:6118296-6118297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376330103	chr11:6118299-6118300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10769656	chr11:6118307-6118308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10769657	chr11:6118329-6118330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10769658	chr11:6118347-6118348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376128337	chr11:6118348-6118349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532390711	chr11:6118363-6118364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10769659	chr11:6118383-6118384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192485351	chr11:6118388-6118389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536436940	chr11:6118393-6118394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140943743	chr11:6118404-6118405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551706608	chr11:6118418-6118419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563637559	chr11:6118430-6118431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7945965	chr11:6118435-6118436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149737983	chr11:6118480-6118481	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6116600-6118800	Enhancers	Placenta	Placenta
2	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
3	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
5	chr11:6117400-6118800	Enhancers	Left Ventricle	heart
6	chr11:6117600-6117800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:6117600-6118000	Enhancers	Right Ventricle	heart
8	chr11:6117600-6118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:6118000-6118600	Enhancers	Psoas Muscle	Psoas
10	chr11:6118200-6118400	Enhancers	Fetal Muscle Leg	muscle
11	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
12	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood

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