Variant report

Variant	nsv579603
Chromosome Location	chr19:42058025-42062131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
2	lnc-C19orf69-2	chr19:42058123-42058198	ENSG00000268027.1
3	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
4	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
5	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
6	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
7	lnc-ATP5SL-2	chr19:42057938-42058639	NONHSAT066473
8	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1

No data

Extended variants
information (count: 130 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16975338	chr19:42058025-42058026	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146139197	chr19:42058027-42058028	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539996392	chr19:42058029-42058030	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555440492	chr19:42058034-42058035	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs573608432	chr19:42058072-42058073	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs550418338	chr19:42058091-42058092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs139997809	chr19:42058156-42058157	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs531132459	chr19:42058158-42058159	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs546071940	chr19:42058177-42058178	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs182383474	chr19:42058204-42058205	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs187409908	chr19:42058216-42058217	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs149816441	chr19:42058223-42058224	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs111360104	chr19:42058251-42058252	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529332527	chr19:42058264-42058265	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs530233280	chr19:42058265-42058266	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373592815	chr19:42058334-42058335	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs550815506	chr19:42058337-42058338	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs368115356	chr19:42058340-42058341	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569049134	chr19:42058354-42058355	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs539780557	chr19:42058387-42058388	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558076398	chr19:42058388-42058389	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144799423	chr19:42058389-42058390	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs548337592	chr19:42058429-42058430	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546177553	chr19:42058526-42058527	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs148529137	chr19:42058541-42058542	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs566868381	chr19:42058563-42058564	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs10414565	chr19:42058616-42058617	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145487601	chr19:42058617-42058618	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552571710	chr19:42058621-42058622	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs117107365	chr19:42058622-42058623	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs557166518	chr19:42058623-42058624	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575422683	chr19:42058654-42058655	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114457698	chr19:42058657-42058658	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564804090	chr19:42058664-42058665	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190927547	chr19:42058704-42058705	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538206476	chr19:42058705-42058706	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540635658	chr19:42058759-42058760	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561904696	chr19:42058764-42058765	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs117425586	chr19:42058814-42058815	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551080917	chr19:42058924-42058925	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574940709	chr19:42058972-42058973	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147666001	chr19:42059017-42059018	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs183088978	chr19:42059076-42059077	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs375860477	chr19:42059106-42059107	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs187630660	chr19:42059113-42059114	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs566768145	chr19:42059121-42059122	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs533812501	chr19:42059230-42059231	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142316170	chr19:42059249-42059250	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144624644	chr19:42059310-42059311	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537588427	chr19:42059339-42059340	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	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:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42053200-42058200	Weak transcription	Lung	lung
2	chr19:42055000-42059200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:42055200-42058400	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:42055200-42059200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:42055600-42058800	Active TSS	Colonic Mucosa	Colon
6	chr19:42055600-42059000	Weak transcription	Spleen	Spleen
7	chr19:42055600-42059200	Active TSS	Duodenum Mucosa	Duodenum
8	chr19:42055600-42059200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr19:42055600-42059400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr19:42055600-42059400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr19:42055600-42059600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr19:42055600-42059600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42055600-42059800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:42055800-42058200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr19:42055800-42058400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:42055800-42058600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:42055800-42058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:42055800-42059200	Active TSS	Primary T cells from cord blood	blood
19	chr19:42055800-42060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr19:42056000-42058400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:42056000-42058800	Active TSS	Brain Hippocampus Middle	brain
22	chr19:42056200-42058800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:42056200-42060400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:42056400-42058400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:42056400-42059400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:42056400-42059600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:42056600-42058400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
28	chr19:42056600-42060200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:42056800-42058400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:42057000-42061000	Weak transcription	HUVEC	blood vessel
31	chr19:42057200-42058800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
32	chr19:42057600-42058800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
33	chr19:42057600-42060000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:42057800-42058200	Flanking Active TSS	Thymus	Thymus
35	chr19:42057800-42058400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
36	chr19:42057800-42058400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr19:42057800-42058400	Active TSS	Esophagus	oesophagus
38	chr19:42057800-42058400	Enhancers	Fetal Muscle Trunk	muscle
39	chr19:42057800-42058400	Enhancers	Right Ventricle	heart
40	chr19:42057800-42059600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:42057800-42060800	Flanking Active TSS	GM12878-XiMat	blood
42	chr19:42058000-42058200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:42058000-42058200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:42058000-42058400	Flanking Active TSS	Fetal Thymus	thymus
45	chr19:42058000-42058400	Enhancers	Right Atrium	heart
46	chr19:42058000-42059000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
47	chr19:42058000-42061200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
49	chr19:42058200-42058400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:42058200-42058400	Enhancers	Lung	lung

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