Variant report

Variant	nsv965532
Chromosome Location	chr5:117686965-117701168
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	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117686661-117687202	NONHSAT103396
2	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610

Extended variants
information (count: 383 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146525610	chr5:117686969-117686970	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551433817	chr5:117687009-117687010	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564143657	chr5:117687029-117687030	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371632081	chr5:117687069-117687070	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191714146	chr5:117687072-117687073	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546729725	chr5:117687079-117687080	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182950537	chr5:117687083-117687084	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575444227	chr5:117687156-117687157	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs139080229	chr5:117687162-117687163	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549326763	chr5:117687212-117687213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569391841	chr5:117687214-117687215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531913604	chr5:117687223-117687224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72791667	chr5:117687249-117687250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571301619	chr5:117687278-117687279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186259714	chr5:117687280-117687281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553940231	chr5:117687297-117687298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546836645	chr5:117687356-117687357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536312554	chr5:117687381-117687382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556096580	chr5:117687460-117687461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142996596	chr5:117687465-117687466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545021542	chr5:117687466-117687467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568770582	chr5:117687480-117687481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536149880	chr5:117687508-117687509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558421058	chr5:117687515-117687516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551031780	chr5:117687517-117687518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569256333	chr5:117687533-117687534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577650975	chr5:117687559-117687560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540252861	chr5:117687574-117687575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147445149	chr5:117687632-117687633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377407083	chr5:117687672-117687673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115272056	chr5:117687694-117687695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190241384	chr5:117687695-117687696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562985106	chr5:117687697-117687698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531922694	chr5:117687735-117687736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370774012	chr5:117687756-117687757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7444283	chr5:117687816-117687817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571945030	chr5:117687839-117687840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375317433	chr5:117687863-117687864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533996287	chr5:117687882-117687883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368123211	chr5:117687887-117687888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555140934	chr5:117687894-117687895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547435039	chr5:117687901-117687902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567232971	chr5:117687917-117687918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535970043	chr5:117687940-117687941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371932001	chr5:117687973-117687974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556222394	chr5:117688001-117688002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182697998	chr5:117688015-117688016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538810798	chr5:117688031-117688032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573638547	chr5:117688060-117688061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544086169	chr5:117688061-117688062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117686800-117687000	Enhancers	Ovary	ovary
2	chr5:117687000-117687200	ZNF genes & repeats	Aorta	Aorta
3	chr5:117687000-117690400	Weak transcription	Ovary	ovary
4	chr5:117688000-117688400	Enhancers	Fetal Lung	lung
5	chr5:117689000-117691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:117689200-117691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:117689200-117691800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:117689400-117690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:117689400-117691000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:117690200-117690800	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:117690400-117690600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:117690400-117690600	Enhancers	Ovary	ovary
13	chr5:117690600-117691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:117691200-117691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:117691600-117691800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:117691600-117691800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:117691800-117693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:117693000-117693800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:117700600-117701000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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