Variant report

Variant	nsv585580
Chromosome Location	chr20:15121563-15147150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1023 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199731584	chr20:15121563-15121564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532331247	chr20:15121569-15121570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369352986	chr20:15121570-15121571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138935292	chr20:15121610-15121611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542316564	chr20:15121612-15121613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547498141	chr20:15121616-15121617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114372723	chr20:15121635-15121636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554564028	chr20:15121655-15121656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs440313	chr20:15121675-15121676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534042414	chr20:15121679-15121680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532707057	chr20:15121690-15121691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558961714	chr20:15121717-15121718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6110531	chr20:15121721-15121722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544806142	chr20:15121734-15121735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181071930	chr20:15121743-15121744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552519172	chr20:15121756-15121757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113107891	chr20:15121765-15121766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575235654	chr20:15121787-15121788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201101224	chr20:15121861-15121862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113979641	chr20:15121901-15121902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542507622	chr20:15121922-15121923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185233172	chr20:15121923-15121924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67958116	chr20:15121933-15121934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528044189	chr20:15121936-15121937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112531450	chr20:15121977-15121978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143970291	chr20:15121987-15121988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs426956	chr20:15122013-15122014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs390502	chr20:15122017-15122018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538164757	chr20:15122018-15122019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs390493	chr20:15122023-15122024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142947422	chr20:15122025-15122026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550859888	chr20:15122028-15122029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35827110	chr20:15122070-15122071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7272024	chr20:15122071-15122072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6079677	chr20:15122105-15122106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576937928	chr20:15122114-15122115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558821218	chr20:15122166-15122167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191171602	chr20:15122171-15122172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368374007	chr20:15122210-15122211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs432033	chr20:15122254-15122255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575046570	chr20:15122309-15122310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372586	chr20:15122361-15122362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146592954	chr20:15122400-15122401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554445972	chr20:15122406-15122407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372640	chr20:15122416-15122417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540208548	chr20:15122448-15122449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564857486	chr20:15122462-15122463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183448536	chr20:15122463-15122464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371449198	chr20:15122501-15122502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6110532	chr20:15122551-15122552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15119600-15125200	Weak transcription	Fetal Heart	heart
2	chr20:15119800-15127400	Weak transcription	Fetal Kidney	kidney
3	chr20:15120600-15122000	Weak transcription	Gastric	stomach
4	chr20:15120600-15122200	Weak transcription	Fetal Intestine Large	intestine
5	chr20:15121200-15121600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:15121200-15121600	Enhancers	Stomach Mucosa	stomach
7	chr20:15121400-15121600	Enhancers	Fetal Intestine Small	intestine
8	chr20:15121400-15125200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr20:15121600-15122000	Weak transcription	Fetal Intestine Small	intestine
10	chr20:15121600-15124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:15122000-15122200	Enhancers	Gastric	stomach
12	chr20:15122000-15123000	Enhancers	Fetal Intestine Small	intestine
13	chr20:15122200-15123000	Enhancers	Fetal Intestine Large	intestine
14	chr20:15124400-15126600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:15125000-15125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:15125200-15125800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:15125200-15126200	Enhancers	Fetal Heart	heart
18	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells	blood
19	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr20:15125400-15126000	Enhancers	Ovary	ovary
21	chr20:15126400-15127800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr20:15126600-15127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:15127400-15127800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:15127400-15127800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr20:15127400-15127800	Enhancers	Brain Germinal Matrix	brain
26	chr20:15127400-15128000	Enhancers	Fetal Kidney	kidney
27	chr20:15127400-15128200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr20:15127400-15128400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:15127600-15128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:15127600-15128400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:15127600-15128400	Enhancers	Fetal Lung	lung
32	chr20:15127800-15128000	Enhancers	Primary hematopoietic stem cells	blood
33	chr20:15127800-15128200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:15127800-15128400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr20:15127800-15129000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:15128200-15131800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr20:15129000-15129600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:15131600-15132000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:15134400-15138000	Enhancers	HMEC	breast
40	chr20:15134600-15137400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:15134600-15137400	Enhancers	Dnd41	blood
42	chr20:15134600-15137400	Enhancers	NHEK	skin
43	chr20:15134800-15136200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:15134800-15137400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:15135000-15136400	Enhancers	Fetal Thymus	thymus
46	chr20:15135400-15136800	Enhancers	Primary T cells from cord blood	blood
47	chr20:15135800-15136200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr20:15136200-15137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:15136800-15142800	Weak transcription	Primary T cells from cord blood	blood
50	chr20:15137200-15137400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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