Variant report

Variant	nsv518324
Chromosome Location	chr13:92917856-92955354
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	chr13:92010436..92012496-chr13:92953050..92954701,2	K562	blood:
2	chr13:92951893..92954281-chr13:92957574..92960507,2	K562	blood:

Extended variants
information (count: 672 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9589470	chr13:92917856-92917857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539794570	chr13:92917868-92917869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138967765	chr13:92917881-92917882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543981789	chr13:92917898-92917899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113472853	chr13:92917923-92917924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574202392	chr13:92917948-92917949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541479963	chr13:92917950-92917951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556375265	chr13:92917990-92917991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140689730	chr13:92918049-92918050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376778057	chr13:92918068-92918069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144653301	chr13:92918072-92918073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540669940	chr13:92918139-92918140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564014742	chr13:92918145-92918146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533108975	chr13:92918205-92918206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550064260	chr13:92918241-92918242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569723511	chr13:92918264-92918265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141132380	chr13:92918272-92918273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186078712	chr13:92918282-92918283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9523564	chr13:92918347-92918348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534996008	chr13:92918361-92918362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558219251	chr13:92918392-92918393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190946290	chr13:92918409-92918410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150303678	chr13:92918415-92918416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9589471	chr13:92918429-92918430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555783813	chr13:92918458-92918459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61966572	chr13:92918465-92918466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138063335	chr13:92918482-92918483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542851927	chr13:92918492-92918493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535593452	chr13:92918517-92918518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180943641	chr13:92918527-92918528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368142801	chr13:92918589-92918590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75899928	chr13:92918623-92918624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9634481	chr13:92918654-92918655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186166818	chr13:92918672-92918673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143741796	chr13:92918676-92918677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555450414	chr13:92918752-92918753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7981189	chr13:92918825-92918826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543305000	chr13:92918862-92918863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77507761	chr13:92918955-92918956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147230106	chr13:92918979-92918980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549227761	chr13:92918980-92918981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199698412	chr13:92918986-92918987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189264189	chr13:92922421-92922422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142785516	chr13:92922458-92922459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528244214	chr13:92922502-92922503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532130241	chr13:92922503-92922504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72638616	chr13:92922549-92922550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551913770	chr13:92922645-92922646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182365630	chr13:92922652-92922653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537720194	chr13:92922676-92922677	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92917200-92918200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:92917600-92919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr13:92917600-92919000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:92918000-92919000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:92918800-92919000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:92922400-92922800	Enhancers	Rectal Smooth Muscle	rectum
7	chr13:92933000-92933800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr13:92933200-92933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:92933200-92933800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr13:92943400-92943600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:92943600-92950400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:92950400-92950600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:92950800-92951000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:92950800-92951000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:92950800-92951200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:92950800-92951600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:92951000-92951600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:92951000-92952600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:92951200-92952400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:92951600-92951800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:92952400-92952800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:92952400-92953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:92953200-92953600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:92954400-92956200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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