Variant report

Variant	esv3503323
Chromosome Location	chr11:5758876-5763474
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	chr11:5757074..5759023-chr11:5763300..5765136,2	K562	blood:

Variant related genes	Relation type
ENSG00000181023	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564505585	chr11:5758885-5758886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192417754	chr11:5758944-5758945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185692757	chr11:5758965-5758966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190203963	chr11:5759015-5759016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7938793	chr11:5759016-5759017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542486043	chr11:5759043-5759044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563564078	chr11:5759064-5759065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78900468	chr11:5759097-5759098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7938089	chr11:5759098-5759099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578100195	chr11:5759106-5759107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12805134	chr11:5759154-5759155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148577330	chr11:5759182-5759183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528274636	chr11:5759190-5759191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73406110	chr11:5759226-5759227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142020519	chr11:5759241-5759242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535413782	chr11:5759243-5759244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150655489	chr11:5759251-5759252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568800293	chr11:5759290-5759291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12803433	chr11:5759317-5759318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77499372	chr11:5759331-5759332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9666140	chr11:5759341-5759342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181909177	chr11:5759354-5759355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553317741	chr11:5759364-5759365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574958397	chr11:5759375-5759376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375789354	chr11:5759388-5759389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186985122	chr11:5759417-5759418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115162890	chr11:5759435-5759436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531065151	chr11:5759441-5759442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546227426	chr11:5759448-5759449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564438605	chr11:5759449-5759450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9665780	chr11:5759460-5759461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553825051	chr11:5759488-5759489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12576875	chr11:5759509-5759510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs77699127	chr11:5759525-5759526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112452271	chr11:5759540-5759541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577246196	chr11:5759600-5759601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74051094	chr11:5759613-5759614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76313093	chr11:5759629-5759630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539309471	chr11:5759640-5759641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76410944	chr11:5759641-5759642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556821903	chr11:5759658-5759659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202120077	chr11:5759667-5759668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566108501	chr11:5759680-5759681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533672628	chr11:5759685-5759686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34303893	chr11:5759704-5759705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150908982	chr11:5759708-5759709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188513236	chr11:5759729-5759730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574978037	chr11:5759755-5759756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375392721	chr11:5759768-5759769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546941951	chr11:5759775-5759776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Esophageal adenocarcinoma	18519675	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5756800-5760400	Weak transcription	Ovary	ovary
3	chr11:5757400-5759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:5757600-5760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:5757800-5759600	Enhancers	NHDF-Ad	bronchial
6	chr11:5757800-5759600	Enhancers	Osteobl	bone
7	chr11:5757800-5759800	Enhancers	HSMMtube	muscle
8	chr11:5757800-5760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:5758000-5759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:5758400-5759600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:5758400-5759600	Enhancers	HSMM	muscle
12	chr11:5759000-5759400	Enhancers	NH-A	brain
13	chr11:5759400-5759800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
15	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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