Variant report

Variant	nsv1060878
Chromosome Location	chr20:41317182-41342290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-3	chr20:41315837-41317202	ENSG00000229042.2

Extended variants
information (count: 1138 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2425525	chr20:41317182-41317183	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6072828	chr20:41317228-41317229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2425526	chr20:41317234-41317235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545940740	chr20:41317248-41317249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564485772	chr20:41317249-41317250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183524832	chr20:41317251-41317252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530522752	chr20:41317261-41317262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543820425	chr20:41317303-41317304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186661511	chr20:41317319-41317320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548471263	chr20:41317324-41317325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111438476	chr20:41317413-41317414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528511316	chr20:41317441-41317442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546653607	chr20:41317571-41317572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566365666	chr20:41317593-41317594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568271912	chr20:41317602-41317603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3092636	chr20:41317611-41317612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143711403	chr20:41317620-41317621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370585034	chr20:41317623-41317624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537437797	chr20:41317699-41317700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191515561	chr20:41317705-41317706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2206429	chr20:41317717-41317718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183994737	chr20:41317757-41317758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114895843	chr20:41317766-41317767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189892772	chr20:41317800-41317801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192788497	chr20:41317803-41317804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553493506	chr20:41317811-41317812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185264626	chr20:41317817-41317818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76489564	chr20:41317826-41317827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556104483	chr20:41317841-41317842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551207819	chr20:41317883-41317884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7274312	chr20:41317906-41317907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553086035	chr20:41317943-41317944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544215974	chr20:41317971-41317972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4812618	chr20:41317987-41317988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114855556	chr20:41317992-41317993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551214453	chr20:41317998-41317999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539996069	chr20:41318000-41318001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56051612	chr20:41318008-41318009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529058511	chr20:41318046-41318047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2425527	chr20:41318076-41318077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112404444	chr20:41318091-41318092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148103104	chr20:41318124-41318125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570794689	chr20:41318136-41318137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539815461	chr20:41318141-41318142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566444845	chr20:41318142-41318143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3092596	chr20:41318150-41318151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536070174	chr20:41318194-41318195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555969316	chr20:41318276-41318277	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575771407	chr20:41318313-41318314	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141234517	chr20:41318327-41318328	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41311800-41318200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41318200-41319600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:41319600-41329200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41326000-41327600	Enhancers	Liver	Liver
5	chr20:41327600-41330400	Weak transcription	Liver	Liver
6	chr20:41328600-41329000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:41328600-41330000	Enhancers	Colon Smooth Muscle	Colon
8	chr20:41328600-41330000	Enhancers	Rectal Smooth Muscle	rectum
9	chr20:41328800-41329600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr20:41328800-41329800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:41329000-41329200	Enhancers	Brain Hippocampus Middle	brain
12	chr20:41329200-41329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:41329400-41330800	Weak transcription	Brain Hippocampus Middle	brain
14	chr20:41329600-41331000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:41329800-41330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:41329800-41330800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:41330000-41335200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:41330000-41335400	Weak transcription	Colon Smooth Muscle	Colon
19	chr20:41330200-41330400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:41330400-41331400	Enhancers	Liver	Liver
21	chr20:41330400-41335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr20:41330600-41331600	Enhancers	Brain Substantia Nigra	brain
23	chr20:41330600-41331600	Enhancers	Stomach Mucosa	stomach
24	chr20:41330800-41331200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:41330800-41331200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr20:41330800-41331200	Enhancers	Duodenum Mucosa	Duodenum
27	chr20:41330800-41331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:41330800-41331400	Enhancers	Brain Angular Gyrus	brain
29	chr20:41330800-41332000	Enhancers	Brain Hippocampus Middle	brain
30	chr20:41331000-41331200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr20:41331000-41331600	Enhancers	Brain Anterior Caudate	brain
32	chr20:41331000-41331600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr20:41331200-41332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:41335200-41336400	Enhancers	Rectal Smooth Muscle	rectum
35	chr20:41335400-41336400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr20:41335400-41336400	Enhancers	Colon Smooth Muscle	Colon
37	chr20:41336400-41337400	Weak transcription	Colon Smooth Muscle	Colon
38	chr20:41336400-41338800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr20:41337400-41337600	Enhancers	Colon Smooth Muscle	Colon
40	chr20:41338800-41339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:41338800-41339400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr20:41339000-41339400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr20:41339400-41350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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