Variant report

Variant	esv3384066
Chromosome Location	chr13:63628351-63639649
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	chr13:63637281..63639152-chr20:26145559..26147940,2	K562	blood:
2	chr13:63637188..63639152-chr20:26145559..26148373,3	K562	blood:

Extended variants
information (count: 427 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115763333	chr13:63629006-63629007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138861293	chr13:63629018-63629019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144659973	chr13:63629019-63629020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77026543	chr13:63629024-63629025	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76071581	chr13:63629025-63629026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533860320	chr13:63629039-63629040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558628294	chr13:63629059-63629060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs3106431	chr13:63629098-63629099	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75227466	chr13:63629104-63629105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76161814	chr13:63629107-63629108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188664705	chr13:63629120-63629121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74815311	chr13:63629124-63629125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117713980	chr13:63629133-63629134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148113100	chr13:63629138-63629139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs67217103	chr13:63629145-63629146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138293172	chr13:63629146-63629147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144216237	chr13:63629147-63629148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113001158	chr13:63629156-63629157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3119955	chr13:63629157-63629158	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79761878	chr13:63629172-63629173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111303268	chr13:63629180-63629181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78142802	chr13:63629195-63629196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79522726	chr13:63629196-63629197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149708075	chr13:63629197-63629198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553534248	chr13:63629199-63629200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145415012	chr13:63629201-63629202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181144576	chr13:63629202-63629203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs117404979	chr13:63629221-63629222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75657309	chr13:63629235-63629236	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77369053	chr13:63629257-63629258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75960916	chr13:63629263-63629264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375591080	chr13:63629271-63629272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368196257	chr13:63629272-63629273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544244417	chr13:63629295-63629296	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200513344	chr13:63629296-63629297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs33911526	chr13:63629301-63629302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563216293	chr13:63629303-63629304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199735787	chr13:63629304-63629305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs141416289	chr13:63629316-63629317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs386771634	chr13:63629330-63629331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115947864	chr13:63629332-63629333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112149459	chr13:63629334-63629335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111502050	chr13:63629341-63629342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530310453	chr13:63629343-63629344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370695127	chr13:63629358-63629359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548801539	chr13:63629361-63629362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560661880	chr13:63629362-63629363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375262755	chr13:63629363-63629364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs367994796	chr13:63629370-63629371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370878830	chr13:63629371-63629372	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63629000-63629400	Active TSS	Aorta	Aorta
2	chr13:63630200-63630800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:63630800-63631000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr13:63631200-63631600	ZNF genes & repeats	Aorta	Aorta
5	chr13:63633200-63633600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:63633600-63635000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:63634000-63635400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:63635000-63635400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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