Variant report

Variant	nsv960846
Chromosome Location	chr19:42310504-42312100
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	chr19:42307703..42310642-chr19:42313204..42315165,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTC2-2	chr19:42311149-42311655	NR_102333

Extended variants
information (count: 76 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185599505	chr19:42310530-42310531	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386809400	chr19:42310549-42310550	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182712115	chr19:42310550-42310551	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559610424	chr19:42310556-42310557	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529721478	chr19:42310598-42310599	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548277130	chr19:42310624-42310625	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563133182	chr19:42310626-42310627	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530567314	chr19:42310637-42310638	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533523298	chr19:42310652-42310653	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377160373	chr19:42310659-42310660	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538966360	chr19:42310697-42310698	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556916117	chr19:42310713-42310714	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557347304	chr19:42310790-42310791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12327868	chr19:42310791-42310792	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186070427	chr19:42310812-42310813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143266843	chr19:42310820-42310821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191971110	chr19:42310821-42310822	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576352161	chr19:42310856-42310857	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537490182	chr19:42310904-42310905	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1811564	chr19:42310919-42310920	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs573386729	chr19:42310956-42310957	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148398784	chr19:42310969-42310970	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541354920	chr19:42310971-42310972	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559550148	chr19:42310980-42310981	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574620460	chr19:42311007-42311008	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541548670	chr19:42311008-42311009	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367928783	chr19:42311018-42311019	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530401083	chr19:42311044-42311045	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5828129	chr19:42311060-42311061	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35240754	chr19:42311061-42311062	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35754226	chr19:42311062-42311063	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112076627	chr19:42311063-42311064	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10423533	chr19:42311139-42311140	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563754480	chr19:42311150-42311151	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532625451	chr19:42311157-42311158	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs371584202	chr19:42311171-42311172	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554570010	chr19:42311177-42311178	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547687500	chr19:42311198-42311199	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566139642	chr19:42311205-42311206	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs536892765	chr19:42311232-42311233	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs113865779	chr19:42311262-42311263	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs570160469	chr19:42311299-42311300	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs555573137	chr19:42311310-42311311	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs537174194	chr19:42311315-42311316	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs201744109	chr19:42311321-42311322	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs111427208	chr19:42311322-42311323	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs570869460	chr19:42311324-42311325	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534868979	chr19:42311356-42311357	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs113579933	chr19:42311357-42311358	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs574528942	chr19:42311369-42311370	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42304800-42316800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42307000-42313600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42307000-42314600	Weak transcription	Fetal Thymus	thymus
4	chr19:42308800-42313000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr19:42308800-42314400	Weak transcription	GM12878-XiMat	blood
6	chr19:42309000-42312000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42309200-42312200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:42309600-42310600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
9	chr19:42310000-42311400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:42310000-42312000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:42310200-42311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:42310200-42311800	Weak transcription	Primary B cells from cord blood	blood
13	chr19:42310400-42310600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:42310600-42311400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr19:42310600-42317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:42311400-42312200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:42311400-42312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:42311400-42312800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr19:42311800-42312200	Enhancers	Primary B cells from cord blood	blood
20	chr19:42312000-42312200	Enhancers	Spleen	Spleen
21	chr19:42312000-42314800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:42312000-42316600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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