Variant report

Variant	nsv1036169
Chromosome Location	chr11:4582150-4597649
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	chr1:45195876..45196736-chr11:4594433..4595433,5	Hela-S3	cervix:

Extended variants
information (count: 885 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10734427	chr11:4582150-4582151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376705051	chr11:4582170-4582171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567202364	chr11:4582187-4582188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549362860	chr11:4582192-4582193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370788102	chr11:4582232-4582233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189038548	chr11:4582236-4582237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370141380	chr11:4582242-4582243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74421493	chr11:4582263-4582264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180836097	chr11:4582281-4582282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141396244	chr11:4582282-4582283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538844564	chr11:4582291-4582292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144993701	chr11:4582297-4582298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386750027	chr11:4582306-4582307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11825618	chr11:4582308-4582309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554524108	chr11:4582313-4582314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73393917	chr11:4582326-4582327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543441480	chr11:4582335-4582336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558568895	chr11:4582338-4582339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577069489	chr11:4582343-4582344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541184076	chr11:4582345-4582346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559600359	chr11:4582354-4582355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369506425	chr11:4582356-4582357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527757687	chr11:4582361-4582362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560952954	chr11:4582403-4582404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138792794	chr11:4582412-4582413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529859369	chr11:4582440-4582441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73393919	chr11:4582448-4582449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531598262	chr11:4582457-4582458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369764207	chr11:4582467-4582468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201854103	chr11:4582484-4582485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538525748	chr11:4582490-4582491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116006334	chr11:4582491-4582492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533771787	chr11:4582526-4582527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2566249	chr11:4582533-4582534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532675575	chr11:4582577-4582578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138838365	chr11:4582578-4582579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547551747	chr11:4582588-4582589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553790281	chr11:4582590-4582591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540208590	chr11:4586404-4586405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561555956	chr11:4586408-4586409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114766249	chr11:4586409-4586410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550423757	chr11:4586414-4586415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562449861	chr11:4586423-4586424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532961035	chr11:4586446-4586447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146401202	chr11:4586454-4586455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12788204	chr11:4586455-4586456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191865695	chr11:4586459-4586460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528607604	chr11:4586471-4586472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547094838	chr11:4586476-4586477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73395822	chr11:4586482-4586483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	23613489	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4580400-4582600	Enhancers	Placenta	Placenta
2	chr11:4586400-4588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:4586600-4588600	Enhancers	Adipose Nuclei	Adipose
4	chr11:4586800-4588600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:4590400-4590600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:4592400-4593400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:4592600-4593600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:4592600-4593600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:4592800-4593000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:4592800-4593200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:4592800-4593600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:4592800-4593600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:4592800-4593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:4593000-4593200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:4593000-4593600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:4593200-4593600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:4593200-4596800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:4596600-4597800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:4596800-4597000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr11:4596800-4597200	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:4596800-4597400	Enhancers	Dnd41	blood
22	chr11:4596800-4597800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr11:4596800-4597800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:4597200-4597600	Enhancers	GM12878-XiMat	blood
25	chr11:4597400-4597800	Bivalent Enhancer	Dnd41	blood
26	chr11:4597600-4598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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