Variant report

Variant	nsv1065647
Chromosome Location	chr20:15049686-15128322
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:

Extended variants
information (count: 1986 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1986 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192334192	chr20:15049700-15049701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144853366	chr20:15049702-15049703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559294704	chr20:15049741-15049742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371971739	chr20:15049756-15049757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574991199	chr20:15049768-15049769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75981071	chr20:15049782-15049783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6110509	chr20:15049788-15049789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569580063	chr20:15049855-15049856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576765152	chr20:15049887-15049888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138535098	chr20:15049888-15049889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397032	chr20:15049893-15049894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576119099	chr20:15050047-15050048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544795894	chr20:15050078-15050079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561491669	chr20:15050103-15050104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567650803	chr20:15050246-15050247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141567152	chr20:15050248-15050249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146176549	chr20:15050287-15050288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571889613	chr20:15050330-15050331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539198955	chr20:15050338-15050339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138006653	chr20:15050340-15050341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149481828	chr20:15050346-15050347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543301794	chr20:15050399-15050400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113983920	chr20:15050424-15050425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573542534	chr20:15050430-15050431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368411754	chr20:15050463-15050464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540774154	chr20:15050477-15050478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559371352	chr20:15050573-15050574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532975650	chr20:15050600-15050601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372352464	chr20:15050622-15050623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550390147	chr20:15050632-15050633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113230907	chr20:15050722-15050723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144792282	chr20:15050725-15050726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563123478	chr20:15050757-15050758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530762533	chr20:15050789-15050790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112893306	chr20:15050802-15050803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532400556	chr20:15050825-15050826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35340080	chr20:15050851-15050852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62202804	chr20:15050863-15050864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367840085	chr20:15050868-15050869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377293359	chr20:15050892-15050893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74179755	chr20:15050921-15050922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116446502	chr20:15050949-15050950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182647648	chr20:15050966-15050967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188947645	chr20:15051038-15051039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148548376	chr20:15051050-15051051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144121206	chr20:15051061-15051062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539113514	chr20:15051069-15051070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557634401	chr20:15051093-15051094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536184309	chr20:15051105-15051106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569463749	chr20:15051191-15051192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15046200-15055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:15049200-15049800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:15049200-15050600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr20:15049600-15050000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:15049600-15050000	Weak transcription	Lung	lung
6	chr20:15050000-15050600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:15050000-15050800	Enhancers	Lung	lung
8	chr20:15050400-15050800	Enhancers	HepG2	liver
9	chr20:15050600-15058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr20:15051200-15052200	Enhancers	Fetal Muscle Leg	muscle
11	chr20:15056000-15056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:15056600-15058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:15057200-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:15057400-15057600	Enhancers	Brain Germinal Matrix	brain
15	chr20:15058000-15058600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:15058000-15059200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:15058200-15059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:15058200-15059000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:15058200-15059200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr20:15058200-15059400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:15058400-15058600	Enhancers	Brain Germinal Matrix	brain
22	chr20:15058400-15059200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:15058400-15059200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:15058600-15059000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr20:15059000-15061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr20:15059800-15060800	Enhancers	Dnd41	blood
27	chr20:15062400-15063200	Enhancers	Fetal Brain Male	brain
28	chr20:15062600-15062800	Enhancers	Fetal Lung	lung
29	chr20:15063400-15064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:15063400-15064000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr20:15063600-15064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:15066800-15070200	Weak transcription	Ovary	ovary
33	chr20:15069400-15070400	Enhancers	Brain Germinal Matrix	brain
34	chr20:15070200-15070600	Enhancers	Ovary	ovary
35	chr20:15070200-15070800	Enhancers	Dnd41	blood
36	chr20:15070600-15071600	Weak transcription	Ovary	ovary
37	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:15070800-15071200	Weak transcription	Dnd41	blood
39	chr20:15071200-15072200	Enhancers	Dnd41	blood
40	chr20:15071400-15072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:15071600-15071800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr20:15071800-15072000	Enhancers	Ovary	ovary
43	chr20:15071800-15072200	Enhancers	Primary T cells from cord blood	blood
44	chr20:15071800-15072400	Enhancers	Stomach Mucosa	stomach
45	chr20:15072200-15072800	Flanking Active TSS	Dnd41	blood
46	chr20:15072800-15073600	Enhancers	Dnd41	blood
47	chr20:15074400-15074600	Enhancers	Stomach Mucosa	stomach
48	chr20:15078200-15078800	Enhancers	HepG2	liver
49	chr20:15081000-15081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:15081200-15082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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