Variant report

Variant	esv989880
Chromosome Location	chr11:5758238-5765079
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: 241 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372206500	chr11:5758245-5758246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149260229	chr11:5758256-5758257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62617826	chr11:5758270-5758271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs199587977	chr11:5758280-5758281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202000107	chr11:5758294-5758295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375273446	chr11:5758323-5758324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191729390	chr11:5758347-5758348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545857409	chr11:5758370-5758371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565167175	chr11:5758379-5758380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148531293	chr11:5758382-5758383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62621167	chr11:5758386-5758387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs36073866	chr11:5758394-5758395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112188360	chr11:5758395-5758396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142329473	chr11:5758397-5758398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114002556	chr11:5758408-5758409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369551291	chr11:5758444-5758445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35783800	chr11:5758447-5758448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548303084	chr11:5758477-5758478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200213218	chr11:5758486-5758487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144847345	chr11:5758490-5758491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374174730	chr11:5758495-5758496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146750076	chr11:5758508-5758509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370914437	chr11:5758518-5758519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530934947	chr11:5758529-5758530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552686611	chr11:5758568-5758569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369203795	chr11:5758574-5758575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140442383	chr11:5758604-5758605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145233768	chr11:5758608-5758609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376119189	chr11:5758609-5758610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137956225	chr11:5758623-5758624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371399429	chr11:5758632-5758633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199693302	chr11:5758641-5758642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568273124	chr11:5758644-5758645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4486660	chr11:5758646-5758647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145949953	chr11:5758650-5758651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377695102	chr11:5758654-5758655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148131819	chr11:5758698-5758699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371017819	chr11:5758714-5758715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116421977	chr11:5758715-5758716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201011587	chr11:5758737-5758738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75720413	chr11:5758814-5758815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7928052	chr11:5758833-5758834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550993032	chr11:5758835-5758836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564505585	chr11:5758885-5758886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192417754	chr11:5758944-5758945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185692757	chr11:5758965-5758966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190203963	chr11:5759015-5759016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7938793	chr11:5759016-5759017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542486043	chr11:5759043-5759044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563564078	chr11:5759064-5759065	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:19 , 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	chr11:5757800-5758400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:5757800-5758400	Enhancers	NHEK	skin
7	chr11:5757800-5758600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:5757800-5758800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:5757800-5759600	Enhancers	NHDF-Ad	bronchial
10	chr11:5757800-5759600	Enhancers	Osteobl	bone
11	chr11:5757800-5759800	Enhancers	HSMMtube	muscle
12	chr11:5757800-5760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:5758000-5759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:5758400-5759600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:5758400-5759600	Enhancers	HSMM	muscle
16	chr11:5759000-5759400	Enhancers	NH-A	brain
17	chr11:5759400-5759800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
19	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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