Variant report

Variant	nsv1067184
Chromosome Location	chr20:15019429-15136103
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	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:

Extended variants
information (count: 3152 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3152 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78834286	chr20:15019430-15019431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544509121	chr20:15019495-15019496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137895964	chr20:15019512-15019513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370035867	chr20:15019553-15019554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76101876	chr20:15019560-15019561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527959391	chr20:15019567-15019568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546295346	chr20:15019600-15019601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142319146	chr20:15019628-15019629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531990122	chr20:15019633-15019634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372672436	chr20:15019675-15019676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147633456	chr20:15019696-15019697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150505830	chr20:15019697-15019698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138543903	chr20:15019742-15019743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11697057	chr20:15019745-15019746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149268255	chr20:15019892-15019893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547932562	chr20:15019941-15019942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560679032	chr20:15019986-15019987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566673424	chr20:15019995-15019996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6034091	chr20:15020018-15020019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144341847	chr20:15020027-15020028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577216907	chr20:15020040-15020041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182162491	chr20:15020054-15020055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556703937	chr20:15020072-15020073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187902600	chr20:15020101-15020102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80041167	chr20:15020114-15020115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117136969	chr20:15020118-15020119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572530141	chr20:15020120-15020121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546504024	chr20:15020173-15020174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs970291	chr20:15020181-15020182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532110001	chr20:15020194-15020195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543761421	chr20:15020201-15020202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562244875	chr20:15020297-15020298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529710452	chr20:15020314-15020315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547995480	chr20:15020315-15020316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140869424	chr20:15020342-15020343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74653628	chr20:15020412-15020413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552487658	chr20:15020435-15020436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192258396	chr20:15020447-15020448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538246509	chr20:15020495-15020496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556569571	chr20:15020496-15020497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144944795	chr20:15020520-15020521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76148480	chr20:15020526-15020527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183632409	chr20:15020529-15020530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572645808	chr20:15020574-15020575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188576112	chr20:15020576-15020577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558434050	chr20:15020610-15020611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576278903	chr20:15020611-15020612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192773883	chr20:15020618-15020619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562108508	chr20:15020627-15020628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529621516	chr20:15020629-15020630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15019200-15019800	Enhancers	Placenta	Placenta
2	chr20:15019200-15020400	Enhancers	Fetal Kidney	kidney
3	chr20:15019200-15020400	Enhancers	Fetal Thymus	thymus
4	chr20:15019200-15020400	Enhancers	Thymus	Thymus
5	chr20:15019400-15020600	Enhancers	HMEC	breast
6	chr20:15019400-15025000	Weak transcription	Dnd41	blood
7	chr20:15019800-15020200	Enhancers	NHEK	skin
8	chr20:15019800-15020400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:15019800-15026000	Weak transcription	Placenta	Placenta
10	chr20:15020000-15020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:15020000-15020200	Enhancers	Fetal Intestine Small	intestine
12	chr20:15020000-15020400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:15020200-15025600	Weak transcription	NHEK	skin
14	chr20:15020200-15025800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:15020200-15027400	Weak transcription	Fetal Intestine Small	intestine
16	chr20:15020400-15024000	Weak transcription	Fetal Thymus	thymus
17	chr20:15020400-15025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:15020400-15025200	Weak transcription	Fetal Kidney	kidney
19	chr20:15020400-15026000	Weak transcription	Thymus	Thymus
20	chr20:15020600-15025200	Weak transcription	HMEC	breast
21	chr20:15023000-15024400	Enhancers	Ovary	ovary
22	chr20:15024000-15029000	Enhancers	Fetal Thymus	thymus
23	chr20:15024400-15024800	Weak transcription	Ovary	ovary
24	chr20:15024800-15026000	Enhancers	Ovary	ovary
25	chr20:15025000-15026200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr20:15025000-15026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:15025000-15027600	Enhancers	Dnd41	blood
28	chr20:15025200-15026000	Bivalent Enhancer	Fetal Lung	lung
29	chr20:15025200-15026200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:15025200-15026200	Enhancers	Fetal Kidney	kidney
31	chr20:15025200-15026600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:15025200-15026800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:15025200-15026800	Enhancers	HMEC	breast
34	chr20:15025600-15026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:15025600-15026800	Enhancers	NHEK	skin
36	chr20:15025800-15026000	Enhancers	HepG2	liver
37	chr20:15025800-15026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:15025800-15026200	Enhancers	Adipose Nuclei	Adipose
39	chr20:15025800-15026200	Enhancers	Fetal Heart	heart
40	chr20:15025800-15026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:15025800-15026800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:15026000-15026200	Enhancers	Placenta	Placenta
43	chr20:15026000-15026800	Enhancers	Thymus	Thymus
44	chr20:15026000-15027000	Weak transcription	Ovary	ovary
45	chr20:15026200-15027600	Weak transcription	Fetal Kidney	kidney
46	chr20:15026200-15029800	Weak transcription	Fetal Heart	heart
47	chr20:15026600-15028000	Enhancers	Fetal Lung	lung
48	chr20:15026800-15027600	Weak transcription	Thymus	Thymus
49	chr20:15027000-15028600	Enhancers	Primary hematopoietic stem cells	blood
50	chr20:15027000-15028600	Enhancers	Ovary	ovary

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