Variant report

Variant	esv1809285
Chromosome Location	chr13:96021183-96023878
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	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7319175	chr13:96021183-96021184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9524946	chr13:96021185-96021186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74106274	chr13:96021200-96021201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552541346	chr13:96021217-96021218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186674747	chr13:96021264-96021265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35211987	chr13:96021308-96021309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368166387	chr13:96021352-96021353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138890305	chr13:96021357-96021358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549799443	chr13:96021368-96021369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548344741	chr13:96021369-96021370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535212264	chr13:96021407-96021408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117963694	chr13:96021434-96021435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116635300	chr13:96021437-96021438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114146199	chr13:96021448-96021449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142024718	chr13:96021449-96021450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577738227	chr13:96021455-96021456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117402791	chr13:96021481-96021482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201825743	chr13:96021485-96021486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560420920	chr13:96021486-96021487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529782710	chr13:96021493-96021494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7325071	chr13:96021555-96021556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202098015	chr13:96021586-96021587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576603965	chr13:96021632-96021633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117715645	chr13:96021639-96021640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191976098	chr13:96021648-96021649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527723602	chr13:96021669-96021670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541678837	chr13:96021688-96021689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564625345	chr13:96021692-96021693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533525753	chr13:96021698-96021699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538603077	chr13:96021704-96021705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139466476	chr13:96021708-96021709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570274954	chr13:96021742-96021743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528932209	chr13:96021763-96021764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149642980	chr13:96021777-96021778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144373434	chr13:96021782-96021783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9888523	chr13:96021817-96021818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558514593	chr13:96021830-96021831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370456172	chr13:96021833-96021834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181081845	chr13:96021834-96021835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537393952	chr13:96021839-96021840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556875812	chr13:96021846-96021847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185513810	chr13:96021856-96021857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148777077	chr13:96021860-96021861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189537648	chr13:96021893-96021894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142419883	chr13:96021912-96021913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572446195	chr13:96021929-96021930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147926487	chr13:96021961-96021962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9524947	chr13:96021980-96021981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs578183571	chr13:96021981-96021982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9524948	chr13:96022035-96022036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Burkitt''s lymphoma	20823134	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96019800-96024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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