Variant report

Variant	nsv138313
Chromosome Location	chr19:21625797-21628433
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	chr19:21628308..21630512-chr19:21641046..21643091,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106425	chr19:21625820-21625821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8105722	chr19:21625829-21625830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75771148	chr19:21625831-21625832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2562427	chr19:21625833-21625834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541156937	chr19:21625834-21625835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189302752	chr19:21625837-21625838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2650764	chr19:21625859-21625860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs139818011	chr19:21625867-21625868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564014200	chr19:21625887-21625888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531306672	chr19:21625888-21625889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559285211	chr19:21625929-21625930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2937155	chr19:21625938-21625939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528991947	chr19:21625981-21625982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147463215	chr19:21626009-21626010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2562426	chr19:21626019-21626020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533153943	chr19:21626031-21626032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551357636	chr19:21626038-21626039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375520742	chr19:21626039-21626040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181363823	chr19:21626064-21626065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8106111	chr19:21626083-21626084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs8106112	chr19:21626085-21626086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569629332	chr19:21626091-21626092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536984340	chr19:21626096-21626097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548944439	chr19:21626097-21626098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28366670	chr19:21626101-21626102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28429384	chr19:21626102-21626103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567369875	chr19:21626104-21626105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534799625	chr19:21626122-21626123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185641099	chr19:21626180-21626181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578077691	chr19:21626194-21626195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539244667	chr19:21626204-21626205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190151154	chr19:21626244-21626245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8107042	chr19:21626270-21626271	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs543387594	chr19:21626276-21626277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561656721	chr19:21626318-21626319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573688873	chr19:21626326-21626327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540721369	chr19:21626329-21626330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559420204	chr19:21626337-21626338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532948737	chr19:21626357-21626358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8101904	chr19:21626377-21626378	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs563172411	chr19:21626379-21626380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530711956	chr19:21626384-21626385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548907315	chr19:21626399-21626400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181382254	chr19:21626400-21626401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34152818	chr19:21626405-21626406	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs367880057	chr19:21626441-21626442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546751232	chr19:21626463-21626464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571731541	chr19:21626476-21626477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538782681	chr19:21626481-21626482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572835849	chr19:21626521-21626522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21618200-21626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21622400-21632600	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:21623200-21630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21623400-21626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21624200-21626400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:21624600-21636400	Weak transcription	Fetal Kidney	kidney
8	chr19:21625000-21625800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr19:21625000-21625800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:21625600-21627000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:21625600-21627000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:21625600-21627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:21625600-21627200	Weak transcription	Dnd41	blood
14	chr19:21625600-21631400	Weak transcription	Ovary	ovary
15	chr19:21625800-21626200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:21626200-21627800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:21626400-21627200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:21626400-21627400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:21626800-21627200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:21626800-21629200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:21627000-21627200	ZNF genes & repeats	Fetal Stomach	stomach
22	chr19:21627000-21627600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:21627000-21629200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:21627000-21629400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr19:21627200-21627400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr19:21627200-21627600	ZNF genes & repeats	Dnd41	blood
27	chr19:21627200-21631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:21627200-21631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:21627200-21631600	Weak transcription	Fetal Stomach	stomach
30	chr19:21627800-21628400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:21627800-21628600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:21628000-21628800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:21628000-21631400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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