Variant report

Variant	nsv977254
Chromosome Location	chr13:67338650-67339538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574731167	chr13:67338825-67338826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539517614	chr13:67338854-67338855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184753193	chr13:67338866-67338867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574672705	chr13:67338883-67338884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9571656	chr13:67338919-67338920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375382783	chr13:67338939-67338940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368335460	chr13:67338945-67338946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9571657	chr13:67338959-67338960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116932377	chr13:67338977-67338978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188075838	chr13:67338980-67338981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531629796	chr13:67338988-67338989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs41378952	chr13:67338990-67338991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568602469	chr13:67339033-67339034	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34176140	chr13:67339069-67339070	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116199584	chr13:67339087-67339088	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546864317	chr13:67339111-67339112	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2324966	chr13:67339138-67339139	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538886720	chr13:67339140-67339141	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192532421	chr13:67339157-67339158	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149733242	chr13:67339158-67339159	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138449677	chr13:67339167-67339168	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs3042109	chr13:67339170-67339171	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143438736	chr13:67339172-67339173	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144110042	chr13:67339174-67339175	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142917402	chr13:67339176-67339177	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192069786	chr13:67339179-67339180	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533137549	chr13:67339183-67339184	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564749831	chr13:67339188-67339189	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113376216	chr13:67339199-67339200	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184335243	chr13:67339203-67339204	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7490849	chr13:67339212-67339213	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113604178	chr13:67339216-67339217	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34518101	chr13:67339217-67339218	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74367376	chr13:67339219-67339220	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28710434	chr13:67339220-67339221	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7490995	chr13:67339236-67339237	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4884701	chr13:67339240-67339241	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544333293	chr13:67339263-67339264	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28538096	chr13:67339268-67339269	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4884702	chr13:67339272-67339273	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373337147	chr13:67339287-67339288	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568809665	chr13:67339289-67339290	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77449248	chr13:67339306-67339307	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17081753	chr13:67339314-67339315	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76688027	chr13:67339321-67339322	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79964082	chr13:67339342-67339343	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114772725	chr13:67339347-67339348	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34904227	chr13:67339349-67339350	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372961430	chr13:67339382-67339383	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12428007	chr13:67339429-67339430	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67336400-67339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:67336600-67339200	Weak transcription	Aorta	Aorta
3	chr13:67336600-67343400	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:67339000-67339400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:67339000-67339400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr13:67339200-67339400	Enhancers	Aorta	Aorta
7	chr13:67339200-67339600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr13:67339400-67340000	Enhancers	Liver	Liver

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