Variant report

Variant	nsv578951
Chromosome Location	chr19:21394177-21403996
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	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:

Extended variants
information (count: 380 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs25760	chr19:21394177-21394178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4485500	chr19:21394210-21394211	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs4609982	chr19:21394226-21394227	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs560683683	chr19:21394227-21394228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559838843	chr19:21394306-21394307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528770798	chr19:21394339-21394340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548431572	chr19:21394340-21394341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529720528	chr19:21394343-21394344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549413828	chr19:21394360-21394361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4411627	chr19:21394400-21394401	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538586427	chr19:21394419-21394420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4560042	chr19:21394444-21394445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs571880646	chr19:21394502-21394503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534405971	chr19:21394531-21394532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1645802	chr19:21394548-21394549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4280382	chr19:21394565-21394566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536738925	chr19:21394570-21394571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556582661	chr19:21394577-21394578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576364470	chr19:21394580-21394581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545361168	chr19:21394584-21394585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570509282	chr19:21394614-21394615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1645803	chr19:21394669-21394670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148055855	chr19:21394672-21394673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539301784	chr19:21394694-21394695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540856482	chr19:21394695-21394696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553124546	chr19:21394702-21394703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572912539	chr19:21394708-21394709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34369481	chr19:21394741-21394742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536452202	chr19:21394745-21394746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58880204	chr19:21394747-21394748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200660120	chr19:21394748-21394749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201991619	chr19:21394749-21394750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71176833	chr19:21394756-21394757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201276087	chr19:21394757-21394758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201857023	chr19:21394758-21394759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79263383	chr19:21394764-21394765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199852635	chr19:21394765-21394766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369631118	chr19:21394766-21394767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150403248	chr19:21394772-21394773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535753292	chr19:21394777-21394778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12979349	chr19:21394784-21394785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11668443	chr19:21394806-21394807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555671489	chr19:21394836-21394837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11672785	chr19:21394857-21394858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186231669	chr19:21394874-21394875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190700635	chr19:21394894-21394895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567847903	chr19:21394901-21394902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11672813	chr19:21394907-21394908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs11668560	chr19:21394916-21394917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs563659094	chr19:21394932-21394933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21389600-21397600	Weak transcription	Ovary	ovary
2	chr19:21393200-21394200	Enhancers	Stomach Mucosa	stomach
3	chr19:21394200-21394400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:21396600-21397000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:21397000-21397600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:21397200-21398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:21397600-21397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr19:21397600-21398000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:21397600-21398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr19:21397600-21398200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:21397600-21398200	Enhancers	Ovary	ovary
12	chr19:21397600-21399400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr19:21398000-21399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:21398000-21404000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:21398200-21402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:21399000-21399200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:21399200-21399400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr19:21399200-21399400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr19:21399200-21399600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr19:21399400-21400000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr19:21399400-21403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:21400000-21403800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:21401600-21401800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:21401800-21405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:21402200-21404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:21403200-21404600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr19:21403600-21405400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr19:21403800-21404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr19:21403800-21405000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:21403800-21405400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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