Variant report

Variant	esv2762893
Chromosome Location	chr11:5384429-5389120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5384124..5385767-chr11:5387283..5389565,2	K562	blood:
2	chr11:5151592..5153371-chr11:5383918..5386236,2	K562	blood:
3	chr11:5151510..5153269-chr11:5386500..5388516,2	K562	blood:
4	chr11:5384124..5385767-chr11:5387283..5389565,2	K562	blood:
5	chr11:5385575..5387754-chr11:5392449..5394884,2	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2736553	chr11:5384429-5384430	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553333510	chr11:5384458-5384459	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372102275	chr11:5384462-5384463	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376404043	chr11:5384463-5384464	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372002752	chr11:5384468-5384469	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60393421	chr11:5384499-5384500	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2647603	chr11:5384517-5384518	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560998341	chr11:5384518-5384519	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115434924	chr11:5384520-5384521	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2647604	chr11:5384535-5384536	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183474728	chr11:5384559-5384560	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2647605	chr11:5384561-5384562	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376841692	chr11:5384571-5384572	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552148427	chr11:5384574-5384575	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11037015	chr11:5384581-5384582	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566862885	chr11:5384582-5384583	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112565550	chr11:5384583-5384584	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67349885	chr11:5384589-5384590	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57251687	chr11:5384598-5384599	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549399875	chr11:5384604-5384605	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2647606	chr11:5384606-5384607	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571054262	chr11:5384609-5384610	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537971087	chr11:5384620-5384621	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370059642	chr11:5384664-5384665	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553552506	chr11:5384688-5384689	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386750150	chr11:5384689-5384690	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368888155	chr11:5384690-5384691	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541336186	chr11:5384692-5384693	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10565063	chr11:5384693-5384694	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563820386	chr11:5384694-5384695	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556310621	chr11:5384697-5384698	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186695985	chr11:5384709-5384710	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374920142	chr11:5384711-5384712	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371974107	chr11:5384718-5384719	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144151871	chr11:5384721-5384722	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527603461	chr11:5384724-5384725	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373085472	chr11:5384725-5384726	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553507481	chr11:5384740-5384741	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554041174	chr11:5384769-5384770	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2467232	chr11:5384781-5384782	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542879091	chr11:5384794-5384795	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368708673	chr11:5384830-5384831	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535799465	chr11:5384855-5384856	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193087393	chr11:5384861-5384862	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576070291	chr11:5384929-5384930	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58281762	chr11:5384935-5384936	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185790717	chr11:5384962-5384963	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112230798	chr11:5384966-5384967	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189917301	chr11:5384974-5384975	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369043365	chr11:5384987-5384988	Enhancers Weak transcription Genic enhancers	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
2	chr11:5383000-5386600	Enhancers	NH-A	brain
3	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:5383200-5388400	Genic enhancers	K562	blood
5	chr11:5383800-5384800	Weak transcription	HUVEC	blood vessel
6	chr11:5383800-5385000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:5383800-5385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:5384000-5385000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:5384000-5385400	Weak transcription	Hela-S3	cervix
10	chr11:5384200-5391200	Enhancers	NHLF	lung
11	chr11:5384200-5391200	Enhancers	Osteobl	bone
12	chr11:5384800-5389600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:5384800-5389600	Enhancers	HUVEC	blood vessel
14	chr11:5385000-5386800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:5385000-5386800	Enhancers	HSMMtube	muscle
16	chr11:5385000-5387400	Enhancers	HSMM	muscle
17	chr11:5385000-5389000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:5385000-5389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:5385000-5391400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:5385200-5385600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:5385400-5385800	Enhancers	Hela-S3	cervix
22	chr11:5385400-5385800	Enhancers	HMEC	breast
23	chr11:5385600-5386000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr11:5385600-5388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:5385800-5388000	Weak transcription	Hela-S3	cervix
26	chr11:5386000-5391200	Enhancers	NHDF-Ad	bronchial
27	chr11:5386400-5387200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:5386600-5386800	Flanking Active TSS	NH-A	brain
29	chr11:5386800-5387000	Enhancers	NH-A	brain
30	chr11:5386800-5388000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:5386800-5388000	Weak transcription	HSMMtube	muscle
32	chr11:5387000-5387200	Flanking Active TSS	NH-A	brain
33	chr11:5387200-5388200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:5387200-5389600	Enhancers	NH-A	brain
35	chr11:5387400-5388200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:5387400-5388200	Weak transcription	HSMM	muscle
37	chr11:5388000-5389000	Enhancers	HSMMtube	muscle
38	chr11:5388000-5390200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:5388000-5390400	Enhancers	Hela-S3	cervix
40	chr11:5388200-5388400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:5388200-5388400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:5388200-5388600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:5388200-5389400	Enhancers	Ovary	ovary
44	chr11:5388200-5389600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:5388200-5390400	Enhancers	HSMM	muscle
46	chr11:5388400-5388800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:5388400-5389400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:5388400-5389400	Weak transcription	K562	blood
49	chr11:5388800-5389200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:5388800-5389400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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