Variant report

Variant	nsv579605
Chromosome Location	chr19:42059850-42062077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
2	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1
3	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
4	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
5	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
6	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1

Extended variants
information (count: 62 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11880869	chr19:42059850-42059851	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184191908	chr19:42059893-42059894	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12972687	chr19:42059990-42059991	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7246864	chr19:42059991-42059992	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187806906	chr19:42060022-42060023	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192633321	chr19:42060034-42060035	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562249374	chr19:42060065-42060066	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76323501	chr19:42060070-42060071	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573339609	chr19:42060113-42060114	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs184621246	chr19:42060185-42060186	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555784461	chr19:42060187-42060188	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144633111	chr19:42060206-42060207	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566578828	chr19:42060254-42060255	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544630293	chr19:42060297-42060298	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138344212	chr19:42060316-42060317	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55859333	chr19:42060317-42060318	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138588422	chr19:42060329-42060330	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578159453	chr19:42060383-42060384	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141572987	chr19:42060389-42060390	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560330990	chr19:42060402-42060403	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527489920	chr19:42060513-42060514	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112814582	chr19:42060551-42060552	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144432813	chr19:42060569-42060570	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189119704	chr19:42060570-42060571	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531467203	chr19:42060585-42060586	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117777658	chr19:42060612-42060613	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563456178	chr19:42060621-42060622	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570886089	chr19:42060680-42060681	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532107945	chr19:42060702-42060703	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79838630	chr19:42060717-42060718	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528024864	chr19:42060731-42060732	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115377854	chr19:42060743-42060744	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377488004	chr19:42060767-42060768	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555890871	chr19:42060792-42060793	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532411917	chr19:42060810-42060811	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567979289	chr19:42060832-42060833	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181691191	chr19:42060909-42060910	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538511316	chr19:42060918-42060919	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556624070	chr19:42060984-42060985	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11881717	chr19:42061064-42061065	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545530163	chr19:42061067-42061068	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553976614	chr19:42061164-42061165	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572461663	chr19:42061196-42061197	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201702186	chr19:42061197-42061198	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542472469	chr19:42061200-42061201	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560718238	chr19:42061216-42061217	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75382992	chr19:42061464-42061465	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184916939	chr19:42061474-42061475	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564577753	chr19:42061505-42061506	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11881771	chr19:42061556-42061557	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42055800-42060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr19:42056200-42060400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:42056600-42060200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:42057000-42061000	Weak transcription	HUVEC	blood vessel
5	chr19:42057600-42060000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:42057800-42060800	Flanking Active TSS	GM12878-XiMat	blood
7	chr19:42058000-42061200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
9	chr19:42058200-42060000	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:42058800-42060000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:42059000-42061800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:42059200-42060400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
13	chr19:42059200-42061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:42059200-42062000	Weak transcription	Spleen	Spleen
15	chr19:42059200-42063200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr19:42059400-42060200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr19:42059400-42060600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:42059400-42060600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr19:42059400-42061200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:42059600-42060000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr19:42059600-42060000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:42059600-42060600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:42059600-42060600	Enhancers	Thymus	Thymus
24	chr19:42059600-42060800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:42059600-42061800	Weak transcription	Fetal Thymus	thymus
26	chr19:42059800-42060000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:42059800-42060200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:42059800-42060200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:42059800-42060200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
30	chr19:42059800-42060800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
31	chr19:42059800-42060800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr19:42059800-42061800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:42059800-42064600	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr19:42060000-42060400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr19:42060000-42060400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:42060000-42060600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:42060000-42060800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:42060000-42060800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:42060000-42061000	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr19:42060000-42061000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr19:42060200-42060600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:42060200-42060600	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
43	chr19:42060200-42060800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:42060200-42060800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr19:42060400-42060600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:42060400-42060600	Genic enhancers	Primary B cells from cord blood	blood
47	chr19:42060400-42060800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr19:42060400-42060800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:42060600-42060800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
50	chr19:42060600-42060800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood

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