Variant report

Variant	nsv541033
Chromosome Location	chr11:47113897-47125838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47103099..47105198-chr11:47112800..47115813,3	K562	blood:
2	chr11:47122507..47125305-chr11:47125314..47127703,3	K562	blood:
3	chr11:47122507..47125305-chr11:47125314..47127703,3	K562	blood:
4	chr11:47124265..47126644-chr11:47130581..47133177,2	K562	blood:

Extended variants
information (count: 346 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531341198	chr11:47113905-47113906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548272481	chr11:47113918-47113919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568182444	chr11:47113932-47113933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4752954	chr11:47114006-47114007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547995667	chr11:47114017-47114018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184020921	chr11:47114074-47114075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12278549	chr11:47114128-47114129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556584221	chr11:47114232-47114233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186921965	chr11:47114271-47114272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114884730	chr11:47114339-47114340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146457258	chr11:47114344-47114345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191335528	chr11:47114381-47114382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149047606	chr11:47114413-47114414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143791264	chr11:47114434-47114435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185101760	chr11:47114461-47114462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576919010	chr11:47114464-47114465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546036741	chr11:47114488-47114489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562656338	chr11:47114489-47114490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190597596	chr11:47114531-47114532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548187382	chr11:47114589-47114590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181945908	chr11:47114601-47114602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561701274	chr11:47114666-47114667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527373418	chr11:47114736-47114737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547223684	chr11:47114761-47114762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185301988	chr11:47114783-47114784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74333972	chr11:47114824-47114825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550418862	chr11:47114906-47114907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189881945	chr11:47114907-47114908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148137850	chr11:47114978-47114979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547333972	chr11:47114994-47114995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181457967	chr11:47114999-47115000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572152864	chr11:47115019-47115020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6485733	chr11:47115038-47115039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557978412	chr11:47115052-47115053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34863199	chr11:47115059-47115060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576933282	chr11:47115068-47115069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545700624	chr11:47115077-47115078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373765362	chr11:47115097-47115098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79289334	chr11:47115105-47115106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576389677	chr11:47115112-47115113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542185407	chr11:47115178-47115179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561666400	chr11:47115216-47115217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185415938	chr11:47115271-47115272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547430628	chr11:47115296-47115297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564044427	chr11:47115414-47115415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533544654	chr11:47115457-47115458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141116426	chr11:47115530-47115531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550089203	chr11:47115550-47115551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76290685	chr11:47115553-47115554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556807836	chr11:47115564-47115565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47089400-47120800	Weak transcription	Hela-S3	cervix
2	chr11:47094000-47116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:47094000-47125200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:47100800-47121000	Weak transcription	HSMMtube	muscle
5	chr11:47106200-47121000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:47110000-47115800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:47110000-47126000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:47110600-47116200	Weak transcription	Fetal Lung	lung
9	chr11:47113400-47114000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47113400-47120000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:47115000-47115400	Enhancers	Pancreas	Pancrea
12	chr11:47115400-47122000	Weak transcription	Pancreas	Pancrea
13	chr11:47115800-47116200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:47116200-47117400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:47116200-47118200	Enhancers	Fetal Lung	lung
16	chr11:47116400-47117000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:47116400-47118200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:47116400-47118400	Enhancers	HepG2	liver
19	chr11:47116600-47117400	Enhancers	Fetal Intestine Small	intestine
20	chr11:47116600-47118200	Enhancers	Brain Anterior Caudate	brain
21	chr11:47116800-47117400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:47117000-47120400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:47117200-47117400	Enhancers	Brain Hippocampus Middle	brain
24	chr11:47117400-47118800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:47117400-47120800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:47117400-47125800	Weak transcription	Fetal Intestine Small	intestine
27	chr11:47117800-47118200	Enhancers	Ovary	ovary
28	chr11:47118200-47120400	Weak transcription	Fetal Lung	lung
29	chr11:47118200-47120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:47118200-47121200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:47118400-47120000	Weak transcription	HepG2	liver
32	chr11:47118800-47123000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47119600-47120000	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:47119800-47120000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:47120000-47120600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:47120000-47121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:47120000-47121200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:47120000-47121800	Enhancers	HepG2	liver
39	chr11:47120000-47122200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:47120000-47122200	Enhancers	Brain Hippocampus Middle	brain
41	chr11:47120200-47120400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:47120200-47121000	Enhancers	Gastric	stomach
43	chr11:47120400-47121400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:47120400-47121600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:47120400-47121600	Enhancers	Fetal Lung	lung
46	chr11:47120400-47123200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47120600-47121200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:47120600-47122000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:47120800-47121400	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:47120800-47121400	Enhancers	Stomach Mucosa	stomach

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