Variant report

Variant	esv3522412
Chromosome Location	chr13:51068201-51076199
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	chr13:51065916..51068221-chr13:51075145..51077143,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:51069312-51069605	NONHSAT033856

Variant related genes	Relation type
ENSG00000176124	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111817012	chr13:51068232-51068233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560179401	chr13:51068267-51068268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527527993	chr13:51068287-51068288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140050341	chr13:51068288-51068289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567057780	chr13:51068306-51068307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537511337	chr13:51068373-51068374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549387056	chr13:51068396-51068397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554035855	chr13:51068400-51068401	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571175402	chr13:51068410-51068411	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560825093	chr13:51068420-51068421	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536383355	chr13:51068453-51068454	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1262776	chr13:51068476-51068477	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76308757	chr13:51068524-51068525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1262775	chr13:51068575-51068576	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs142061616	chr13:51068578-51068579	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75543472	chr13:51068591-51068592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531040208	chr13:51068610-51068611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544673184	chr13:51068613-51068614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575724039	chr13:51068638-51068639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562882314	chr13:51068641-51068642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146291784	chr13:51068667-51068668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9316499	chr13:51068705-51068706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560426188	chr13:51068708-51068709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200695367	chr13:51068755-51068756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1262774	chr13:51068896-51068897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528633600	chr13:51068952-51068953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560116776	chr13:51068958-51068959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1262773	chr13:51068985-51068986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531308152	chr13:51069057-51069058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549424309	chr13:51069063-51069064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1262772	chr13:51069071-51069072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142577557	chr13:51069104-51069105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532177387	chr13:51069108-51069109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56106155	chr13:51069146-51069147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531207568	chr13:51069148-51069149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113178484	chr13:51069167-51069168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547053676	chr13:51069203-51069204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550918827	chr13:51069220-51069221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571620318	chr13:51069248-51069249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528006955	chr13:51069278-51069279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186170375	chr13:51069323-51069324	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190879156	chr13:51069345-51069346	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs143915651	chr13:51069350-51069351	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201809221	chr13:51069351-51069352	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200129601	chr13:51069352-51069353	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181130323	chr13:51069420-51069421	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs534469210	chr13:51069595-51069596	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs139244559	chr13:51069752-51069753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548057463	chr13:51069987-51069988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138067170	chr13:51075030-51075031	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Trisomy	24170809	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
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
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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51065600-51068600	Weak transcription	HepG2	liver
2	chr13:51067600-51069400	Enhancers	Fetal Thymus	thymus
3	chr13:51067800-51068400	Enhancers	K562	blood
4	chr13:51067800-51069000	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:51067800-51069200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr13:51067800-51069200	Enhancers	Thymus	Thymus
7	chr13:51068000-51068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:51068000-51068600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:51068000-51069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:51068000-51069400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr13:51068200-51068400	Enhancers	Dnd41	blood
12	chr13:51068200-51068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:51068200-51069200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:51068200-51069200	Enhancers	Primary T cells from cord blood	blood
15	chr13:51068400-51068600	Flanking Active TSS	Dnd41	blood
16	chr13:51068400-51068800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:51068600-51070000	Enhancers	Dnd41	blood
18	chr13:51069000-51069400	Enhancers	Adipose Nuclei	Adipose
19	chr13:51075000-51075400	Enhancers	Thymus	Thymus
20	chr13:51075000-51075800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:51075000-51075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:51075000-51075800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr13:51075200-51075800	Enhancers	K562	blood
24	chr13:51075400-51083400	Weak transcription	Thymus	Thymus
25	chr13:51075800-51084800	Weak transcription	K562	blood

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