Variant report

Variant	nsv1065805
Chromosome Location	chr19:19938366-19962239
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	chr19:19947704..19949744-chr19:19979333..19982219,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF253-2	chr19:19944282-19944408	ENSG00000267419.1
2	lnc-ZNF506-2	chr19:19945686-19946088	ENSG00000245381
3	lnc-ZNF253-2	chr19:19945713-19945736	ENSG00000267419.1

Variant related genes	Relation type
ENSG00000270270	chromatin interactions
CXADR	miRNA target sites

Extended variants
information (count: 818 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548130306	chr19:19938459-19938460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568106254	chr19:19938465-19938466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537083278	chr19:19938468-19938469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530170978	chr19:19938508-19938509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs55763201	chr19:19938533-19938534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550640572	chr19:19938559-19938560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183565035	chr19:19938609-19938610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139699975	chr19:19938664-19938665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550087520	chr19:19938688-19938689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145097005	chr19:19938710-19938711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566715192	chr19:19938749-19938750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116215539	chr19:19938760-19938761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144959410	chr19:19938763-19938764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376320338	chr19:19938774-19938775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575293674	chr19:19938814-19938815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544250450	chr19:19938818-19938819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149021342	chr19:19938819-19938820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187638417	chr19:19938837-19938838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190958170	chr19:19938948-19938949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113682125	chr19:19938964-19938965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143033207	chr19:19938984-19938985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528729910	chr19:19939029-19939030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542102689	chr19:19939039-19939040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71340306	chr19:19939102-19939103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186987877	chr19:19939108-19939109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562073754	chr19:19939155-19939156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530786784	chr19:19939167-19939168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550577364	chr19:19939169-19939170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182074685	chr19:19939179-19939180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368402908	chr19:19939250-19939251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533271991	chr19:19939281-19939282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs56043443	chr19:19939300-19939301	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576915426	chr19:19939336-19939337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186668668	chr19:19939368-19939369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535680037	chr19:19939373-19939374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4808998	chr19:19939387-19939388	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs552951507	chr19:19939401-19939402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116688571	chr19:19939435-19939436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574713837	chr19:19939534-19939535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542525131	chr19:19939620-19939621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557795821	chr19:19939688-19939689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577619078	chr19:19939751-19939752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539947608	chr19:19939790-19939791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553868147	chr19:19939800-19939801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534589009	chr19:19939847-19939848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573337109	chr19:19939854-19939855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542041035	chr19:19939880-19939881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12977036	chr19:19939910-19939911	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs191436131	chr19:19939911-19939912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184820188	chr19:19939953-19939954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	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
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19933400-19953400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:19939800-19948200	ZNF genes & repeats	Liver	Liver
3	chr19:19940600-19942000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:19940600-19942600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:19940800-19941400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr19:19940800-19942200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:19940800-19942200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19940800-19942200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:19940800-19942600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:19943400-19946800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:19944600-19947000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:19944800-19948200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:19945000-19948400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:19945800-19951200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:19946000-19946800	ZNF genes & repeats	Brain Substantia Nigra	brain
16	chr19:19946000-19947000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:19950000-19950200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:19950200-19966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:19951200-19951600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr19:19951200-19954400	ZNF genes & repeats	Liver	Liver
21	chr19:19951600-19953400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:19951800-19956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19953400-19954800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr19:19953800-19955200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr19:19953800-19955400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:19954800-19967000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:19955400-19958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:19956600-19957000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:19956600-19957200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:19956600-19957200	ZNF genes & repeats	Liver	Liver
31	chr19:19958600-19959400	Active TSS	Placenta	Placenta
32	chr19:19958600-19959600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:19958600-19966400	Weak transcription	Right Atrium	heart
34	chr19:19958800-19959000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr19:19958800-19959200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:19959000-19968800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:19959200-19960600	Enhancers	Primary B cells from peripheral blood	blood
38	chr19:19959200-19971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:19959400-19960200	Enhancers	Primary B cells from cord blood	blood
40	chr19:19960600-19962400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:19962000-19962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:19962000-19962800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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