Variant report

Variant	nsv995010
Chromosome Location	chr13:67327801-67341918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 310 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553397345	chr13:67334814-67334815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140630458	chr13:67334828-67334829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150450845	chr13:67334829-67334830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs193069756	chr13:67334860-67334861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370279810	chr13:67334866-67334867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567059613	chr13:67334871-67334872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371274559	chr13:67334889-67334890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183911966	chr13:67334890-67334891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556013237	chr13:67334896-67334897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs188858286	chr13:67334933-67334934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572819633	chr13:67334937-67334938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191959812	chr13:67334939-67334940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138299445	chr13:67334944-67334945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564428016	chr13:67334947-67334948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184561137	chr13:67334948-67334949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs543868853	chr13:67334961-67334962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117193057	chr13:67334969-67334970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs1822211	chr13:67334974-67334975	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9540903	chr13:67334978-67334979	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1822210	chr13:67334980-67334981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527534709	chr13:67335001-67335002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547297548	chr13:67335010-67335011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570081608	chr13:67335030-67335031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539070484	chr13:67335035-67335036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188631501	chr13:67335077-67335078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569685732	chr13:67335112-67335113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191929001	chr13:67335119-67335120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555733519	chr13:67335241-67335242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572682702	chr13:67335259-67335260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs536678336	chr13:67335262-67335263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558506805	chr13:67335266-67335267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs578054124	chr13:67335288-67335289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555017979	chr13:67335296-67335297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543484056	chr13:67335297-67335298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35817046	chr13:67335315-67335316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs398023177	chr13:67335318-67335319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563791754	chr13:67335320-67335321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367803924	chr13:67335321-67335322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543110229	chr13:67335353-67335354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184244723	chr13:67335363-67335364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs527498401	chr13:67335366-67335367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540724963	chr13:67335367-67335368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149637254	chr13:67335368-67335369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115510702	chr13:67335381-67335382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532925998	chr13:67335413-67335414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372565724	chr13:67335423-67335424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116255425	chr13:67335435-67335436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569732671	chr13:67335487-67335488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535158891	chr13:67335488-67335489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549111281	chr13:67335517-67335518	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67334800-67335400	ZNF genes & repeats	Aorta	Aorta
2	chr13:67335000-67335400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:67335400-67336200	Weak transcription	Aorta	Aorta
4	chr13:67335800-67336400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr13:67336000-67336800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:67336200-67336600	ZNF genes & repeats	Aorta	Aorta
7	chr13:67336200-67336600	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr13:67336200-67336600	Bivalent/Poised TSS	Gastric	stomach
9	chr13:67336400-67339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:67336600-67339200	Weak transcription	Aorta	Aorta
11	chr13:67336600-67343400	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:67339000-67339400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:67339000-67339400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr13:67339200-67339400	Enhancers	Aorta	Aorta
15	chr13:67339200-67339600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr13:67339400-67340000	Enhancers	Liver	Liver

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