Variant report

Variant	esv3443221
Chromosome Location	chr13:39529577-39532125
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	chr13:39531190..39533683-chr13:39627978..39630971,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56744232	chr13:39529585-39529586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577619590	chr13:39529656-39529657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545841719	chr13:39529668-39529669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58684391	chr13:39529671-39529672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367669771	chr13:39529679-39529680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192547256	chr13:39529696-39529697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561889608	chr13:39529707-39529708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386770177	chr13:39529719-39529720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58028605	chr13:39529720-39529721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559976302	chr13:39529732-39529733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371927831	chr13:39529766-39529767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532454197	chr13:39529788-39529789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552215973	chr13:39529806-39529807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542894896	chr13:39529813-39529814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531248726	chr13:39529814-39529815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72074621	chr13:39529845-39529846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112907265	chr13:39529849-39529850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548303755	chr13:39529853-39529854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142522445	chr13:39529857-39529858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534347415	chr13:39529871-39529872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548024249	chr13:39529910-39529911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61277006	chr13:39529918-39529919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140942046	chr13:39529926-39529927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183535953	chr13:39529935-39529936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576377889	chr13:39529945-39529946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73169421	chr13:39529958-39529959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555395188	chr13:39529963-39529964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186788797	chr13:39530006-39530007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9576657	chr13:39530048-39530049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192435060	chr13:39530083-39530084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61945535	chr13:39530102-39530103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372974994	chr13:39530111-39530112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184826640	chr13:39530117-39530118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562686947	chr13:39530118-39530119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58834069	chr13:39530120-39530121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548213762	chr13:39530125-39530126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144667691	chr13:39530132-39530133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9576658	chr13:39530140-39530141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146620782	chr13:39530170-39530171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369404638	chr13:39530186-39530187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539688461	chr13:39530198-39530199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73169423	chr13:39530199-39530200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61945537	chr13:39530212-39530213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570256934	chr13:39530214-39530215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73169425	chr13:39530217-39530218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551754066	chr13:39530273-39530274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9576659	chr13:39530279-39530280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141353426	chr13:39530283-39530284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150235484	chr13:39530287-39530288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558009079	chr13:39530332-39530333	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39528000-39532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:39532000-39532200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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