Variant report

Variant	esv3423613
Chromosome Location	chr11:8466776-8471074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs4627069	chr11:8466805-8466806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548457493	chr11:8466822-8466823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61052603	chr11:8466908-8466909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530508237	chr11:8466939-8466940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180815966	chr11:8466959-8466960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570532395	chr11:8467019-8467020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184443782	chr11:8467059-8467060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547173298	chr11:8467076-8467077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533618972	chr11:8467096-8467097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143115193	chr11:8467100-8467101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535818418	chr11:8467143-8467144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556003384	chr11:8467149-8467150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374070302	chr11:8467151-8467152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201827519	chr11:8467176-8467177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59323709	chr11:8467177-8467178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573548036	chr11:8467206-8467207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189720914	chr11:8467215-8467216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575584180	chr11:8467218-8467219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147476434	chr11:8467237-8467238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181312921	chr11:8467241-8467242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577669829	chr11:8467256-8467257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138311071	chr11:8467267-8467268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185683702	chr11:8467268-8467269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185685626	chr11:8467314-8467315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572993646	chr11:8467329-8467330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111806798	chr11:8467366-8467367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541789430	chr11:8467380-8467381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561981240	chr11:8467413-8467414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530539745	chr11:8467472-8467473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576330050	chr11:8467479-8467480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550545925	chr11:8467526-8467527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564179072	chr11:8467533-8467534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190491822	chr11:8467544-8467545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181681352	chr11:8467545-8467546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566981381	chr11:8467611-8467612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536031717	chr11:8467630-8467631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549427341	chr11:8467641-8467642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569506797	chr11:8467642-8467643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537854293	chr11:8467668-8467669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149571715	chr11:8467679-8467680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577607812	chr11:8467695-8467696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367931087	chr11:8467772-8467773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534076656	chr11:8467795-8467796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186190662	chr11:8467807-8467808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141647276	chr11:8467821-8467822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398115029	chr11:8467823-8467824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565060102	chr11:8467828-8467829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7108120	chr11:8467846-8467847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572966636	chr11:8467859-8467860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190996073	chr11:8467887-8467888	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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