Variant report

Variant	nsv519254
Chromosome Location	chr13:54414564-54442809
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	chr13:54411879..54413790-chr13:54440349..54442010,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-10	chr13:54424439-54424529	l_854_chr13:54424438-54458818_testes
2	lnc-OLFM4-3	chr13:54414818-54414945	ENSG00000261517.1
3	lnc-OLFM4-3	chr13:54418480-54418657	ENSG00000261517.1

Extended variants
information (count: 365 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:365 , 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	rs574472652	chr13:54414846-54414847	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs543437041	chr13:54414854-54414855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs541631859	chr13:54414927-54414928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs1379831	chr13:54418506-54418507	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560600540	chr13:54418510-54418511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs574058731	chr13:54418546-54418547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572914534	chr13:54418605-54418606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542626192	chr13:54418624-54418625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564017742	chr13:54418628-54418629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530674987	chr13:54418636-54418637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550854591	chr13:54418641-54418642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530379960	chr13:54421603-54421604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113338205	chr13:54421615-54421616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189593548	chr13:54421644-54421645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532609768	chr13:54421648-54421649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114702964	chr13:54421683-54421684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534102130	chr13:54421724-54421725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77363056	chr13:54421736-54421737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565867059	chr13:54421744-54421745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550828602	chr13:54421749-54421750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564783541	chr13:54421752-54421753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142414237	chr13:54421765-54421766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532815483	chr13:54421828-54421829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9596858	chr13:54421858-54421859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568364162	chr13:54421896-54421897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182528369	chr13:54421916-54421917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556223510	chr13:54421954-54421955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188235431	chr13:54422004-54422005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538863772	chr13:54422043-54422044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs193001536	chr13:54422057-54422058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572137173	chr13:54422070-54422071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541137423	chr13:54422095-54422096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532992206	chr13:54422174-54422175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368346149	chr13:54422180-54422181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574398611	chr13:54422200-54422201	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17088978	chr13:54422204-54422205	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556122440	chr13:54422206-54422207	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535505229	chr13:54422234-54422235	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574199100	chr13:54422239-54422240	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549465369	chr13:54422240-54422241	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185204394	chr13:54422282-54422283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35869865	chr13:54422354-54422355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9568942	chr13:54422355-54422356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545951638	chr13:54422384-54422385	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200873479	chr13:54422424-54422425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559527252	chr13:54422510-54422511	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528516148	chr13:54422560-54422561	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549205215	chr13:54422585-54422586	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569047189	chr13:54422611-54422612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570376511	chr13:54422615-54422616	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54421600-54422000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:54422000-54422400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:54422200-54423400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:54422200-54423800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:54422200-54423800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:54422400-54422600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:54422400-54423000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:54422400-54423200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr13:54422400-54423200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:54422400-54423400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:54422400-54423400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:54422600-54423200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:54422600-54423200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:54422600-54423200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:54422600-54423400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:54422600-54423600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:54422800-54423000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:54429600-54430200	Active TSS	Esophagus	oesophagus
19	chr13:54431400-54432400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:54432400-54433600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:54433600-54433800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:54437000-54438000	Enhancers	Fetal Brain Male	brain
23	chr13:54439800-54440800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:54440800-54445200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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