Variant report

Variant	nsv974088
Chromosome Location	chr13:48337681-48341502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:48339812-48340044	HepG2	liver:	n/a	chr13:48339923-48339934
2	CEBPB	chr13:48339822-48339947	A549	lung:	n/a	chr13:48339923-48339934
3	MAFF	chr13:48338971-48339298	HepG2	liver:	n/a	chr13:48339144-48339162
4	MAFF	chr13:48338984-48339265	K562	blood:	n/a	chr13:48339144-48339162
5	MAFK	chr13:48338970-48339331	HepG2	liver:	n/a	chr13:48339145-48339160
6	MAFK	chr13:48339078-48339264	H1-hESC	embryonic stem cell:	n/a	chr13:48339145-48339160
7	MAFK	chr13:48339039-48339285	Hela-S3	cervix:	n/a	chr13:48339145-48339160
8	MAFK	chr13:48339051-48339233	K562	blood:	n/a	chr13:48339145-48339160
9	MAFK	chr13:48338976-48339331	IMR90	lung:	n/a	chr13:48339145-48339160
10	MAFK	chr13:48339004-48339316	HepG2	liver:	n/a	chr13:48339145-48339160
11	MYC	chr13:48337835-48337865	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr13:48339593-48339664	ProgFib	skin:	n/a	n/a
13	SRF	chr13:48339721-48339817	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48338058..48339804-chr13:48349149..48350961,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT15-5	chr13:48337878-48337963	NONHSAT033686
2	lnc-NUDT15-5	chr13:48337790-48337868	NONHSAT033686
3	lnc-SUCLA2-7	chr13:48340775-48341220	NONHSAT033687

Variant related genes	Relation type
RPL27AP8	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191574919	chr13:48337863-48337864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553615163	chr13:48337908-48337909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574365271	chr13:48337957-48337958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113061551	chr13:48340852-48340853	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs368426892	chr13:48340866-48340867	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569163756	chr13:48340964-48340965	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555384411	chr13:48340974-48340975	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs539058308	chr13:48341001-48341002	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557373302	chr13:48341036-48341037	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs141048520	chr13:48341063-48341064	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149817718	chr13:48341144-48341145	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs145873975	chr13:48341145-48341146	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs573792614	chr13:48341177-48341178	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544048727	chr13:48341195-48341196	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372345756	chr13:48341217-48341218	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs145880293	chr13:48341259-48341260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138553020	chr13:48341314-48341315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191300101	chr13:48341321-48341322	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17899364	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
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	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
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48340800-48341400	Enhancers	Pancreas	Pancrea

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