Variant report

Variant	esv3430487
Chromosome Location	chr13:64657951-64661849
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	chr13:64648914..64651680-chr13:64658514..64661246,2	K562	blood:

Variant related genes	Relation type
ENSG00000227674	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372445904	chr13:64658521-64658522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188048924	chr13:64658573-64658574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531127691	chr13:64658596-64658597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs272388	chr13:64658634-64658635	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567740961	chr13:64658731-64658732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147863125	chr13:64658747-64658748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs272387	chr13:64658766-64658767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9528703	chr13:64658768-64658769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571769625	chr13:64658799-64658800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538992730	chr13:64658808-64658809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557092297	chr13:64658816-64658817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192835616	chr13:64658829-64658830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs207473903	chr13:64658842-64658843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9528704	chr13:64658886-64658887	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554883661	chr13:64658898-64658899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572693051	chr13:64658901-64658902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185185973	chr13:64658949-64658950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376443244	chr13:64658961-64658962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373006700	chr13:64658962-64658963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61956616	chr13:64658989-64658990	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532089073	chr13:64659073-64659074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571853746	chr13:64659098-64659099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199885897	chr13:64659116-64659117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139606020	chr13:64659117-64659118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72521042	chr13:64659120-64659121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71097609	chr13:64659121-64659122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557664581	chr13:64659125-64659126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544163072	chr13:64659179-64659180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562369064	chr13:64659180-64659181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187507701	chr13:64659209-64659210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141432167	chr13:64659233-64659234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116191406	chr13:64659263-64659264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192674206	chr13:64659295-64659296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184863213	chr13:64659343-64659344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571734995	chr13:64659360-64659361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570828821	chr13:64659362-64659363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539156060	chr13:64659363-64659364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557456279	chr13:64659385-64659386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569142685	chr13:64659425-64659426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536691699	chr13:64659475-64659476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554563977	chr13:64659486-64659487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555461666	chr13:64659491-64659492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370436686	chr13:64659514-64659515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572804117	chr13:64659516-64659517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540000758	chr13:64659522-64659523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138064566	chr13:64659523-64659524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573783732	chr13:64659526-64659527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576503887	chr13:64659532-64659533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149064336	chr13:64659574-64659575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188403220	chr13:64659590-64659591	Inactive region	Chromatin interactive region	1 gene(s)	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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