Variant report

Variant	nsv562605
Chromosome Location	chr13:85858193-85865524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7320578	chr13:85858193-85858194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558273474	chr13:85862203-85862204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185942138	chr13:85862224-85862225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554277459	chr13:85862260-85862261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572492862	chr13:85862267-85862268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12877926	chr13:85862269-85862270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561143923	chr13:85862301-85862302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190810188	chr13:85862303-85862304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576659040	chr13:85862332-85862333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181765639	chr13:85862348-85862349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562657623	chr13:85862374-85862375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529957662	chr13:85862375-85862376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565207934	chr13:85862393-85862394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377025933	chr13:85862401-85862402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548459091	chr13:85862406-85862407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199955583	chr13:85862408-85862409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71210947	chr13:85862409-85862410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186421749	chr13:85862430-85862431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142625991	chr13:85862434-85862435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114865313	chr13:85862435-85862436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1586653	chr13:85862440-85862441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544432198	chr13:85862456-85862457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538312091	chr13:85862469-85862470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12877297	chr13:85862540-85862541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568599059	chr13:85862572-85862573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2342394	chr13:85862587-85862588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150973977	chr13:85862599-85862600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191184866	chr13:85862641-85862642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142071843	chr13:85862642-85862643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145865975	chr13:85862678-85862679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576534820	chr13:85862683-85862684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138689305	chr13:85862691-85862692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566453087	chr13:85862726-85862727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376438359	chr13:85862734-85862735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141104852	chr13:85862747-85862748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574573232	chr13:85862787-85862788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1826142	chr13:85862845-85862846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560462043	chr13:85862870-85862871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75762461	chr13:85862902-85862903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1602224	chr13:85862971-85862972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531851764	chr13:85862974-85862975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182967765	chr13:85862993-85862994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538820469	chr13:85863022-85863023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551157111	chr13:85863031-85863032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568605341	chr13:85863059-85863060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188472907	chr13:85863085-85863086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547807173	chr13:85863112-85863113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566045605	chr13:85863160-85863161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191296413	chr13:85863170-85863171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150278008	chr13:85863190-85863191	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85857000-85858200	Enhancers	NH-A	brain
2	chr13:85857400-85858200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:85857400-85858200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:85862200-85862800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:85862200-85863600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:85862400-85863600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:85862600-85863000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:85862600-85863200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:85862800-85863000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:85862800-85863600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:85862800-85863600	Enhancers	HUES48 Cell Line	embryonic stem cell

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