Variant report

Variant	esv3355444
Chromosome Location	chr11:8465176-8469474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146429274	chr11:8465203-8465204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117222913	chr11:8465215-8465216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10840048	chr11:8465219-8465220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565366021	chr11:8465245-8465246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542554938	chr11:8465277-8465278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61880267	chr11:8465294-8465295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371779868	chr11:8465319-8465320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554666782	chr11:8465325-8465326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375338628	chr11:8465326-8465327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189607690	chr11:8465409-8465410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557552417	chr11:8465469-8465470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577506303	chr11:8465531-8465532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369209872	chr11:8465545-8465546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546545953	chr11:8465580-8465581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117618261	chr11:8465590-8465591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573203585	chr11:8465610-8465611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541828129	chr11:8465686-8465687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535926875	chr11:8465695-8465696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376283295	chr11:8465705-8465706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140761732	chr11:8465811-8465812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530868037	chr11:8465818-8465819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57375387	chr11:8465866-8465867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564369792	chr11:8465873-8465874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs726008	chr11:8465941-8465942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564545812	chr11:8465945-8465946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563189116	chr11:8465947-8465948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533383293	chr11:8465949-8465950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs726007	chr11:8465963-8465964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61570828	chr11:8466008-8466009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565606694	chr11:8466012-8466013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528113263	chr11:8466031-8466032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547831129	chr11:8466082-8466083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568159547	chr11:8466085-8466086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143017375	chr11:8466095-8466096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557069079	chr11:8466133-8466134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571088760	chr11:8466150-8466151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540001965	chr11:8466236-8466237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs118131354	chr11:8466245-8466246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573410281	chr11:8466250-8466251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148174378	chr11:8466262-8466263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368882437	chr11:8466277-8466278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542215467	chr11:8466336-8466337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555517477	chr11:8466419-8466420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569434678	chr11:8466435-8466436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3969875	chr11:8466437-8466438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544328001	chr11:8466536-8466537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564225755	chr11:8466563-8466564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576644387	chr11:8466568-8466569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377730342	chr11:8466638-8466639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559941667	chr11:8466695-8466696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8460200-8481200	Weak transcription	Fetal Kidney	kidney
2	chr11:8462000-8484600	Weak transcription	Ovary	ovary
3	chr11:8464400-8483400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:8464400-8488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:8464600-8484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:8464600-8485800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:8464600-8488200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:8464600-8489000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:8464600-8495800	Weak transcription	Fetal Heart	heart

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