Variant report

Variant	nsv579610
Chromosome Location	chr19:42061367-42062077
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	chr19:42061580-42061832	ENSG00000268027.1
2	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
3	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
4	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1

Extended variants
information (count: 16 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75382992	chr19:42061464-42061465	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs184916939	chr19:42061474-42061475	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564577753	chr19:42061505-42061506	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	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
5	rs547324900	chr19:42061592-42061593	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555318776	chr19:42061624-42061625	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565649962	chr19:42061662-42061663	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550656737	chr19:42061673-42061674	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375211112	chr19:42061693-42061694	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532399912	chr19:42061702-42061703	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs10411384	chr19:42061744-42061745	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs529763970	chr19:42061870-42061871	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111577913	chr19:42061967-42061968	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79752526	chr19:42061975-42061976	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73933660	chr19:42062027-42062028	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117166918	chr19:42062034-42062035	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
2	chr19:42059000-42061800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:42059200-42061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:42059200-42062000	Weak transcription	Spleen	Spleen
5	chr19:42059200-42063200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr19:42059600-42061800	Weak transcription	Fetal Thymus	thymus
7	chr19:42059800-42061800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:42059800-42064600	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr19:42060600-42061800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:42060600-42062600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:42060800-42061400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:42060800-42061400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:42060800-42061400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:42060800-42061800	Enhancers	GM12878-XiMat	blood
15	chr19:42060800-42062000	Active TSS	Primary T cells fromperipheralblood	blood
16	chr19:42060800-42062000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:42060800-42063800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:42061000-42061400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:42061000-42061400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:42061000-42061400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:42061000-42061600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:42061000-42062000	Enhancers	HUVEC	blood vessel
23	chr19:42061000-42062400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr19:42061000-42062800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:42061200-42061400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:42061200-42061600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:42061200-42061600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr19:42061200-42061600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr19:42061200-42061800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr19:42061200-42062000	Enhancers	Dnd41	blood
31	chr19:42061200-42062200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr19:42061200-42062600	Enhancers	Thymus	Thymus
33	chr19:42061400-42061600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:42061400-42061600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr19:42061400-42061800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:42061400-42062000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:42061400-42062400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:42061400-42062400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:42061400-42062600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr19:42061400-42062600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:42061600-42061800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:42061600-42062000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr19:42061600-42062400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:42061600-42062600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:42061600-42062600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr19:42061600-42063200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr19:42061800-42062000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:42061800-42062000	Enhancers	Duodenum Mucosa	Duodenum
49	chr19:42061800-42062000	Genic enhancers	GM12878-XiMat	blood
50	chr19:42061800-42062200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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