Variant report

Variant	esv3404199
Chromosome Location	chr13:39561402-39563800
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	chr13:39559201..39562021-chr13:39568354..39570299,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557493170	chr13:39561412-39561413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138412618	chr13:39561446-39561447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553520150	chr13:39561466-39561467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537470295	chr13:39561513-39561514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557412208	chr13:39561515-39561516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113898074	chr13:39561517-39561518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536753954	chr13:39561528-39561529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542414811	chr13:39561529-39561530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189902806	chr13:39561567-39561568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564186880	chr13:39561593-39561594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562206097	chr13:39561596-39561597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575886443	chr13:39561637-39561638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572246741	chr13:39561654-39561655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144075117	chr13:39561738-39561739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148244250	chr13:39561760-39561761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577540399	chr13:39561814-39561815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12857215	chr13:39561853-39561854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12854781	chr13:39561911-39561912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12857571	chr13:39561917-39561918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111286683	chr13:39561949-39561950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552093702	chr13:39561968-39561969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562951719	chr13:39561997-39561998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183190476	chr13:39562025-39562026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548122132	chr13:39562031-39562032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186499993	chr13:39562063-39562064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556513488	chr13:39562069-39562070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191707660	chr13:39562101-39562102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183534931	chr13:39562148-39562149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188884422	chr13:39562164-39562165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192480926	chr13:39562199-39562200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183552474	chr13:39562226-39562227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186687605	chr13:39562232-39562233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549106641	chr13:39562234-39562235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191557334	chr13:39562260-39562261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184737081	chr13:39562271-39562272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189669061	chr13:39562297-39562298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193016441	chr13:39562302-39562303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185210388	chr13:39562353-39562354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189097061	chr13:39562373-39562374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368101314	chr13:39562408-39562409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181868077	chr13:39562423-39562424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186385388	chr13:39562441-39562442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188099650	chr13:39562443-39562444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111216618	chr13:39562462-39562463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559681345	chr13:39562463-39562464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528717677	chr13:39562466-39562467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180941228	chr13:39562471-39562472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368573839	chr13:39562479-39562480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371983577	chr13:39562499-39562500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186413619	chr13:39562512-39562513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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 clear cell carcinoma	21343371	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39555600-39564600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:39555600-39564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:39561000-39561600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:39561000-39564600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:39561400-39564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:39561600-39564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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