Variant report

Variant	esv3518174
Chromosome Location	chr13:51444703-51446362
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	chr13:51444050..51446783-chr13:51482621..51484438,2	K562	blood:

Variant related genes	Relation type
ENSG00000136104	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577116105	chr13:51444712-51444713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386770957	chr13:51444745-51444746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150431093	chr13:51444746-51444747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374395248	chr13:51444751-51444752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574303697	chr13:51444756-51444757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9535516	chr13:51444763-51444764	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs553269286	chr13:51444786-51444787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574708148	chr13:51444798-51444799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200393768	chr13:51444877-51444878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9568483	chr13:51444889-51444890	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs548345387	chr13:51444892-51444893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545530583	chr13:51444918-51444919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564113899	chr13:51444935-51444936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527259354	chr13:51444946-51444947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528040364	chr13:51444948-51444949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547702268	chr13:51444949-51444950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374282666	chr13:51444950-51444951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556125900	chr13:51444969-51444970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145789692	chr13:51444971-51444972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375481090	chr13:51444972-51444973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142424340	chr13:51444975-51444976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56767427	chr13:51444997-51444998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549894632	chr13:51445037-51445038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552135596	chr13:51445072-51445073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559594018	chr13:51445077-51445078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576313136	chr13:51445105-51445106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530262885	chr13:51445110-51445111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548363575	chr13:51445222-51445223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75690801	chr13:51445250-51445251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74650307	chr13:51445341-51445342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369110966	chr13:51445354-51445355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9563006	chr13:51445360-51445361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs182914810	chr13:51445455-51445456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534987849	chr13:51445462-51445463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553332712	chr13:51445470-51445471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574769971	chr13:51445495-51445496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535689601	chr13:51445523-51445524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557117427	chr13:51445555-51445556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7994724	chr13:51445560-51445561	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs4360838	chr13:51445616-51445617	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563992871	chr13:51445629-51445630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572531399	chr13:51445677-51445678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142749343	chr13:51445730-51445731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9591368	chr13:51445738-51445739	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs559658879	chr13:51445753-51445754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73186349	chr13:51445803-51445804	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77217431	chr13:51445858-51445859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186862072	chr13:51445879-51445880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563914624	chr13:51445930-51445931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9591369	chr13:51445934-51445935	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:122)

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
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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51442200-51447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:51442800-51449800	Weak transcription	Dnd41	blood

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