Variant report

Variant	nsv983571
Chromosome Location	chr13:29613684-29619812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188573395	chr13:29613691-29613692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556232270	chr13:29613731-29613732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181553304	chr13:29613733-29613734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187149450	chr13:29613742-29613743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558730829	chr13:29613778-29613779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572217631	chr13:29613828-29613829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545142864	chr13:29613855-29613856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570818754	chr13:29613856-29613857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191919191	chr13:29613858-29613859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529682223	chr13:29613903-29613904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375426485	chr13:29613956-29613957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372716968	chr13:29613977-29613978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149128162	chr13:29614089-29614090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182506143	chr13:29614105-29614106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571834123	chr13:29614133-29614134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527909497	chr13:29614167-29614168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs326508	chr13:29614168-29614169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs326507	chr13:29614175-29614176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140565884	chr13:29614197-29614198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187306416	chr13:29614199-29614200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569776892	chr13:29614219-29614220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138502127	chr13:29614220-29614221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558809303	chr13:29614238-29614239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572188572	chr13:29614245-29614246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561274179	chr13:29614273-29614274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540907437	chr13:29614275-29614276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554844707	chr13:29614372-29614373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574788469	chr13:29614382-29614383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189719591	chr13:29614383-29614384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9508232	chr13:29614393-29614394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575531727	chr13:29614406-29614407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146140741	chr13:29614407-29614408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182332965	chr13:29614442-29614443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559219860	chr13:29614448-29614449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138389375	chr13:29614476-29614477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547724827	chr13:29614493-29614494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76526041	chr13:29614529-29614530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149237102	chr13:29614532-29614533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11616797	chr13:29614539-29614540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530141776	chr13:29614555-29614556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374491959	chr13:29614563-29614564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533121563	chr13:29614569-29614570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185520903	chr13:29614584-29614585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552630224	chr13:29614597-29614598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566087816	chr13:29614613-29614614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190428758	chr13:29614659-29614660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554477735	chr13:29614684-29614685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372921139	chr13:29614713-29614714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377498565	chr13:29614726-29614727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183387423	chr13:29614754-29614755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29606200-29623600	Weak transcription	Aorta	Aorta
2	chr13:29612200-29614600	Weak transcription	Right Atrium	heart
3	chr13:29612400-29633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:29613600-29619200	Weak transcription	Fetal Heart	heart
5	chr13:29618800-29620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:29619000-29619600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:29619200-29623200	Enhancers	Fetal Heart	heart
8	chr13:29619600-29620400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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