Variant report

Variant	esv3377221
Chromosome Location	chr11:10195476-10199774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540355425	chr11:10195478-10195479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560175802	chr11:10195483-10195484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529114795	chr11:10195507-10195508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556481560	chr11:10195512-10195513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569062882	chr11:10195541-10195542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576428285	chr11:10195550-10195551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199707515	chr11:10195588-10195589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550579319	chr11:10195593-10195594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570486402	chr11:10195614-10195615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372968600	chr11:10195648-10195649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539427700	chr11:10195669-10195670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200888398	chr11:10195671-10195672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201283603	chr11:10195675-10195676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188119646	chr11:10195689-10195690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555888525	chr11:10195694-10195695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143304500	chr11:10195704-10195705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147521818	chr11:10195705-10195706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138477915	chr11:10195721-10195722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558465790	chr11:10195730-10195731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192744348	chr11:10195736-10195737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141922344	chr11:10195757-10195758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150644894	chr11:10195766-10195767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184354003	chr11:10195767-10195768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542468569	chr11:10195774-10195775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556359591	chr11:10195805-10195806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187539237	chr11:10195806-10195807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565905643	chr11:10195808-10195809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531525116	chr11:10195857-10195858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7935252	chr11:10195874-10195875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11493333	chr11:10195898-10195899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571193988	chr11:10195928-10195929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533195120	chr11:10195932-10195933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546926293	chr11:10195933-10195934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538865722	chr11:10195934-10195935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192488846	chr11:10195960-10195961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376795164	chr11:10195964-10195965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59076108	chr11:10196078-10196079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13377297	chr11:10196080-10196081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13377226	chr11:10196120-10196121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558526265	chr11:10196164-10196165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578248599	chr11:10196165-10196166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539853192	chr11:10196209-10196210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553690466	chr11:10196227-10196228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573671271	chr11:10196302-10196303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185099550	chr11:10196307-10196308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7939531	chr11:10196316-10196317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562223654	chr11:10196319-10196320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575868700	chr11:10196352-10196353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12276316	chr11:10196362-10196363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7117790	chr11:10196379-10196380	Weak transcription	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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10178200-10213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:10184600-10211400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:10186200-10209200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:10188000-10222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:10194800-10206800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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