Variant report

Variant	nsv528856
Chromosome Location	chr20:14553745-14573967
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	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:

Extended variants
information (count: 757 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6131595	chr20:14553745-14553746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552854509	chr20:14553746-14553747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139801691	chr20:14553806-14553807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17227104	chr20:14553846-14553847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145278048	chr20:14553915-14553916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147568124	chr20:14553947-14553948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535951631	chr20:14554038-14554039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148601253	chr20:14554106-14554107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566303096	chr20:14554107-14554108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533741550	chr20:14554108-14554109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146241069	chr20:14554221-14554222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78129117	chr20:14554224-14554225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397748489	chr20:14554234-14554235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548940177	chr20:14554270-14554271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577059913	chr20:14554326-14554327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185716550	chr20:14554347-14554348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191262429	chr20:14554352-14554353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556266604	chr20:14554431-14554432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183370899	chr20:14554455-14554456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566051292	chr20:14554491-14554492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542313523	chr20:14554524-14554525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6042795	chr20:14554534-14554535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571894184	chr20:14554548-14554549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527844524	chr20:14554610-14554611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186282427	chr20:14554696-14554697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564719801	chr20:14554726-14554727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531891401	chr20:14554742-14554743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550486909	chr20:14554765-14554766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2423826	chr20:14554776-14554777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571744817	chr20:14554818-14554819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116946089	chr20:14554820-14554821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6079498	chr20:14554840-14554841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142056339	chr20:14554915-14554916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556790348	chr20:14554937-14554938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151181976	chr20:14555009-14555010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536395482	chr20:14555021-14555022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5840626	chr20:14555022-14555023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3044717	chr20:14555045-14555046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191179701	chr20:14555053-14555054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371470078	chr20:14555078-14555079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182556533	chr20:14555158-14555159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570659244	chr20:14555179-14555180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187902569	chr20:14555199-14555200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537714329	chr20:14555237-14555238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556441555	chr20:14555285-14555286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567715859	chr20:14555312-14555313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574694126	chr20:14555361-14555362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2423827	chr20:14555379-14555380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554246219	chr20:14555385-14555386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572571879	chr20:14555424-14555425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14549800-14556800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:14556600-14557800	Enhancers	Liver	Liver
3	chr20:14556800-14557200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr20:14556800-14557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:14556800-14557400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:14557000-14557400	Enhancers	Fetal Intestine Large	intestine
7	chr20:14557200-14563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr20:14557400-14561200	Weak transcription	Fetal Intestine Large	intestine
9	chr20:14557800-14561200	Weak transcription	Liver	Liver
10	chr20:14560600-14561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:14560600-14561600	Enhancers	Fetal Brain Female	brain
12	chr20:14560800-14562000	Enhancers	A549	lung
13	chr20:14561000-14561800	Enhancers	Stomach Mucosa	stomach
14	chr20:14561200-14561400	Enhancers	Pancreas	Pancrea
15	chr20:14561200-14561600	Enhancers	Fetal Intestine Large	intestine
16	chr20:14561200-14561800	Enhancers	Liver	Liver
17	chr20:14561200-14561800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr20:14561400-14561800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr20:14561400-14569200	Weak transcription	Pancreas	Pancrea
20	chr20:14561800-14563200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:14562000-14563800	Weak transcription	A549	lung
22	chr20:14562400-14564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:14562400-14564800	Enhancers	HMEC	breast
24	chr20:14563000-14564000	Enhancers	Dnd41	blood
25	chr20:14563400-14564000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr20:14563400-14564200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:14563400-14564600	Enhancers	HSMM	muscle
28	chr20:14563600-14564200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr20:14563600-14564200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr20:14563600-14564400	Enhancers	HSMMtube	muscle
31	chr20:14563600-14564800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:14563600-14564800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:14563600-14564800	Enhancers	NHEK	skin
34	chr20:14563600-14565000	Enhancers	Hela-S3	cervix
35	chr20:14563800-14564200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr20:14563800-14564800	Enhancers	A549	lung
37	chr20:14564800-14569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:14569200-14569400	ZNF genes & repeats	Pancreas	Pancrea
39	chr20:14569800-14570600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:14570600-14577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:14572600-14573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr20:14572600-14573000	Enhancers	HMEC	breast

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