Variant report

Variant	esv1793841
Chromosome Location	chr13:49532972-49536464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49535149..49536967-chr13:49548289..49550226,2	K562	blood:
2	chr13:49535111..49537978-chr13:49544443..49546396,2	K562	blood:
3	chr13:49518698..49520988-chr13:49531338..49533079,2	K562	blood:

Variant related genes	Relation type
ENSG00000102531	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9535119	chr13:49532972-49532973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534785737	chr13:49532995-49532996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374100626	chr13:49533030-49533031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376951383	chr13:49533032-49533033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572552222	chr13:49533065-49533066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377053340	chr13:49533079-49533080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562664623	chr13:49533103-49533104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116352684	chr13:49533160-49533161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369908649	chr13:49533176-49533177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33945289	chr13:49533196-49533197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187688859	chr13:49533224-49533225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532611390	chr13:49533285-49533286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12561433	chr13:49533333-49533334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528190996	chr13:49533341-49533342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374482961	chr13:49533342-49533343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541584849	chr13:49533357-49533358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559048519	chr13:49533367-49533368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386770840	chr13:49533375-49533376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192184214	chr13:49533410-49533411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184390024	chr13:49533485-49533486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188753636	chr13:49533499-49533500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569313886	chr13:49533542-49533543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10652456	chr13:49533554-49533555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71921135	chr13:49533557-49533558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71076056	chr13:49533564-49533565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9526508	chr13:49533568-49533569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530485078	chr13:49533637-49533638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74452160	chr13:49533642-49533643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149739551	chr13:49533703-49533704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192636759	chr13:49533803-49533804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61407683	chr13:49533828-49533829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398022699	chr13:49533830-49533831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58689908	chr13:49533833-49533834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376312138	chr13:49533843-49533844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184616840	chr13:49533844-49533845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376888227	chr13:49533861-49533862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553189872	chr13:49533869-49533870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189129007	chr13:49533961-49533962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566217852	chr13:49533973-49533974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147889109	chr13:49534024-49534025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555050853	chr13:49534076-49534077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576366331	chr13:49534077-49534078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543766081	chr13:49534116-49534117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559008088	chr13:49534221-49534222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370627755	chr13:49534298-49534299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9526509	chr13:49534317-49534318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182587188	chr13:49534319-49534320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114982774	chr13:49534396-49534397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34946117	chr13:49534404-49534405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141533769	chr13:49534458-49534459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
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
Chronic lymphocytic leukemia	21670202	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
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	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
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49532800-49535200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:49535200-49536200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr13:49535400-49536000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:49536400-49536800	Enhancers	K562	blood

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