Variant report

Variant	nsv976113
Chromosome Location	chr13:50464858-50466977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr13:50465648-50465989	GM12878	blood:	n/a	chr13:50465875-50465886
2	BATF	chr13:50465696-50465986	GM12878	blood:	n/a	chr13:50465875-50465886
3	CTCF	chr13:50465357-50465390	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50464224..50465231-chr14:39736139..39736859,3	MCF-7	breast:
2	chr13:50464730..50466250-chr14:39735376..39737030,2	MCF-7	breast:
3	chr13:50464748..50466249-chr14:39735670..39738225,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM13-8	chr13:50464545-50467516	NR_003268

Variant related genes	Relation type
RNY4P30	TF binding region
ENSG00000150527	chromatin interactions
ENSG00000258940	chromatin interactions
ENSG00000258941	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 123 )

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	rs542041841	chr13:50464895-50464896	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs556874042	chr13:50464920-50464921	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs370587877	chr13:50464931-50464932	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs141264719	chr13:50464934-50464935	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs7337071	chr13:50464944-50464945	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs575048246	chr13:50464962-50464963	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs185530034	chr13:50464969-50464970	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs564004321	chr13:50464972-50464973	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs189371926	chr13:50464984-50464985	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs539823753	chr13:50464994-50464995	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs561853552	chr13:50464998-50464999	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs528969104	chr13:50465013-50465014	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs576746312	chr13:50465151-50465152	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs371942570	chr13:50465179-50465180	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs548813917	chr13:50465207-50465208	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs570160867	chr13:50465219-50465220	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs531089230	chr13:50465226-50465227	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs552921859	chr13:50465260-50465261	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs571133738	chr13:50465273-50465274	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs535047062	chr13:50465297-50465298	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs553076744	chr13:50465298-50465299	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs568586694	chr13:50465308-50465309	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs535580909	chr13:50465320-50465321	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs145653567	chr13:50465354-50465355	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs180690238	chr13:50465373-50465374	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs545563919	chr13:50465417-50465418	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs185168851	chr13:50465519-50465520	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs115194622	chr13:50465555-50465556	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs540261330	chr13:50465564-50465565	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs75540113	chr13:50465577-50465578	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs559959219	chr13:50465615-50465616	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs528702017	chr13:50465623-50465624	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs9562936	chr13:50465630-50465631	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs189978977	chr13:50465654-50465655	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs181225903	chr13:50465658-50465659	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs186690047	chr13:50465730-50465731	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs191568428	chr13:50465802-50465803	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs7331776	chr13:50465821-50465822	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528772055	chr13:50465835-50465836	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs547225114	chr13:50465858-50465859	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs568372301	chr13:50465877-50465878	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs146627845	chr13:50465945-50465946	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs550816232	chr13:50465951-50465952	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs183820673	chr13:50465975-50465976	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs568986189	chr13:50465990-50465991	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs539280707	chr13:50466001-50466002	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs551030032	chr13:50466005-50466006	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs570778235	chr13:50466015-50466016	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs533323749	chr13:50466032-50466033	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs572844990	chr13:50466038-50466039	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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	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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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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