Variant report

Variant	nsv1046136
Chromosome Location	chr13:69051662-69070011
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	chr13:69050045..69051722-chr13:69054182..69056211,2	K562	blood:
2	chr13:69050045..69051722-chr13:69054182..69056211,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546407893	chr13:69054642-69054643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559683681	chr13:69054646-69054647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151151581	chr13:69054653-69054654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533383974	chr13:69054660-69054661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552358388	chr13:69054698-69054699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185884404	chr13:69054715-69054716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371151011	chr13:69054845-69054846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143119124	chr13:69054882-69054883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs525338	chr13:69054895-69054896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567587857	chr13:69054896-69054897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17083450	chr13:69054903-69054904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553211749	chr13:69054927-69054928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566918528	chr13:69054930-69054931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368598810	chr13:69054935-69054936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528903160	chr13:69054954-69054955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192408975	chr13:69054956-69054957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200143913	chr13:69054960-69054961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs678386	chr13:69054995-69054996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145688129	chr13:69055035-69055036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575424649	chr13:69055107-69055108	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183847021	chr13:69055188-69055189	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188817527	chr13:69055199-69055200	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555224150	chr13:69055206-69055207	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191416187	chr13:69055233-69055234	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs202080314	chr13:69055260-69055261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77601439	chr13:69055300-69055301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs5804389	chr13:69055301-69055302	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374048559	chr13:69055307-69055308	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572964253	chr13:69055311-69055312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199998899	chr13:69055312-69055313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs71721281	chr13:69055313-69055314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs66942186	chr13:69055316-69055317	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs398023241	chr13:69055322-69055323	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559998741	chr13:69055328-69055329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532196071	chr13:69055337-69055338	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547280848	chr13:69055348-69055349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12585412	chr13:69055357-69055358	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565594770	chr13:69055389-69055390	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545909358	chr13:69055392-69055393	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1887593	chr13:69055410-69055411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114168064	chr13:69055413-69055414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79734166	chr13:69055484-69055485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568315405	chr13:69055494-69055495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557637517	chr13:69055500-69055501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571443324	chr13:69055564-69055565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182536303	chr13:69055591-69055592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs681086	chr13:69055597-69055598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546928227	chr13:69055624-69055625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566750928	chr13:69055643-69055644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186903351	chr13:69055694-69055695	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69054600-69054800	Enhancers	Left Ventricle	heart
2	chr13:69054600-69055000	Enhancers	Fetal Heart	heart
3	chr13:69054600-69055600	Enhancers	Pancreas	Pancrea
4	chr13:69054600-69056000	Enhancers	Ovary	ovary
5	chr13:69055000-69055400	Enhancers	Aorta	Aorta
6	chr13:69055000-69055400	Flanking Active TSS	Fetal Heart	heart
7	chr13:69055000-69056200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:69055400-69055600	Enhancers	Left Ventricle	heart
9	chr13:69055400-69056200	Enhancers	Fetal Heart	heart
10	chr13:69055600-69056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:69068000-69068400	Enhancers	Cortex derived primary cultured neurospheres	brain

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