Variant report

Variant	esv1809780
Chromosome Location	chr13:51069443-51084150
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
2	lnc-RNASEH2B-3	chr13:51076948-51077016	XLOC_010390

Variant related genes	Relation type
ENSG00000176124	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs534469210	chr13:51069595-51069596	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs139244559	chr13:51069752-51069753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548057463	chr13:51069987-51069988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138067170	chr13:51075030-51075031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202114453	chr13:51075075-51075076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201207605	chr13:51075078-51075079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149111933	chr13:51075146-51075147	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536917494	chr13:51075155-51075156	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111873278	chr13:51075192-51075193	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577007657	chr13:51075201-51075202	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541220532	chr13:51075274-51075275	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182285215	chr13:51075310-51075311	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138684753	chr13:51075350-51075351	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1630605	chr13:51075385-51075386	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs563247185	chr13:51075419-51075420	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200340616	chr13:51075421-51075422	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532037188	chr13:51075454-51075455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550165608	chr13:51075491-51075492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565563324	chr13:51075515-51075516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532643185	chr13:51075577-51075578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12586080	chr13:51075613-51075614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185680235	chr13:51075616-51075617	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531269665	chr13:51075651-51075652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567010272	chr13:51075679-51075680	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548198459	chr13:51075688-51075689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1753639	chr13:51075736-51075737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564575878	chr13:51075755-51075756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537445194	chr13:51075785-51075786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201758	chr13:51075852-51075853	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577045310	chr13:51075907-51075908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534553305	chr13:51075989-51075990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141781657	chr13:51076013-51076014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368907607	chr13:51076040-51076041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201757	chr13:51076070-51076071	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563280453	chr13:51076076-51076077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575170588	chr13:51076121-51076122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377184123	chr13:51076122-51076123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545777774	chr13:51076183-51076184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369176331	chr13:51076219-51076220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9526671	chr13:51076380-51076381	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs386770930	chr13:51076400-51076401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1327654	chr13:51076402-51076403	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146326135	chr13:51076422-51076423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199547861	chr13:51076437-51076438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1327653	chr13:51076440-51076441	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181013538	chr13:51076444-51076445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200831513	chr13:51076571-51076572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530838708	chr13:51076650-51076651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377367976	chr13:51076652-51076653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539164065	chr13:51076756-51076757	Weak transcription	Chromatin interactive region	1 gene(s)	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51068600-51070000	Enhancers	Dnd41	blood
2	chr13:51075000-51075400	Enhancers	Thymus	Thymus
3	chr13:51075000-51075800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:51075000-51075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:51075000-51075800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:51075200-51075800	Enhancers	K562	blood
7	chr13:51075400-51083400	Weak transcription	Thymus	Thymus
8	chr13:51075800-51084800	Weak transcription	K562	blood
9	chr13:51082800-51086000	Weak transcription	Gastric	stomach
10	chr13:51083000-51083800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr13:51083200-51086200	Enhancers	HepG2	liver
12	chr13:51083400-51083600	ZNF genes & repeats	Thymus	Thymus
13	chr13:51083400-51084200	Enhancers	HSMM	muscle
14	chr13:51083400-51084400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:51083400-51084400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:51083400-51084400	Enhancers	NH-A	brain
17	chr13:51083400-51084400	Enhancers	Osteobl	bone
18	chr13:51083400-51085800	Enhancers	Dnd41	blood
19	chr13:51083600-51084400	Weak transcription	Thymus	Thymus
20	chr13:51084000-51084200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:51084000-51084200	Enhancers	Spleen	Spleen
22	chr13:51084000-51084200	Enhancers	HSMMtube	muscle
23	chr13:51084000-51084400	Enhancers	HMEC	breast
24	chr13:51084000-51084400	Enhancers	NHDF-Ad	bronchial
25	chr13:51084000-51084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:51084000-51086400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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