Variant report

Variant	nsv900091
Chromosome Location	chr13:54182173-54272104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:54128556..54131217-chr13:54185376..54186896,2	MCF-7	breast:
2	chr13:54214945..54217343-chr13:54221329..54223882,2	K562	blood:
3	chr13:53996660..53998932-chr13:54254094..54256636,2	MCF-7	breast:
4	chr13:54262097..54264058-chr13:54265102..54267919,2	K562	blood:
5	chr13:54255787..54257307-chr8:43091408..43092931,2	MCF-7	breast:
6	chr13:54256807..54257307-chr8:43092259..43092909,2	MCF-7	breast:
7	chr13:54256787..54257307-chr8:43092259..43092930,2	MCF-7	breast:
8	chr13:54262097..54264058-chr13:54265102..54267919,2	K562	blood:
9	chr13:54222984..54225792-chr13:54226034..54227625,2	K562	blood:
10	chr13:54215843..54218051-chr13:54222381..54223882,2	K562	blood:
11	chr13:54214945..54217343-chr13:54221329..54223882,2	K562	blood:
12	chr13:54222984..54225792-chr13:54226034..54227625,2	K562	blood:
13	chr13:54215843..54218051-chr13:54222381..54223882,2	K562	blood:

No data

Extended variants
information (count: 846 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184723007	chr13:54182209-54182210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7335634	chr13:54182220-54182221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543451475	chr13:54182235-54182236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189043066	chr13:54182274-54182275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137920400	chr13:54182331-54182332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9943940	chr13:54182333-54182334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149021864	chr13:54182337-54182338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565952809	chr13:54182360-54182361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2860123	chr13:54182368-54182369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182038682	chr13:54182387-54182388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568069288	chr13:54182405-54182406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144932179	chr13:54182428-54182429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557367954	chr13:54182436-54182437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35482953	chr13:54182454-54182455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9285188	chr13:54182465-54182466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4884585	chr13:54182479-54182480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558757226	chr13:54182502-54182503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185461096	chr13:54182517-54182518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138754970	chr13:54182518-54182519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564639820	chr13:54182554-54182555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1577741	chr13:54182565-54182566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554700696	chr13:54182583-54182584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9285190	chr13:54182609-54182610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs543033118	chr13:54182640-54182641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141785867	chr13:54182667-54182668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112653779	chr13:54182688-54182689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558073921	chr13:54182714-54182715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146237244	chr13:54182738-54182739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559482352	chr13:54182742-54182743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34906997	chr13:54182809-54182810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377762432	chr13:54182877-54182878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148026857	chr13:54182889-54182890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548423413	chr13:54182892-54182893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562032750	chr13:54182922-54182923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190517094	chr13:54182934-54182935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180904776	chr13:54182982-54182983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570848591	chr13:54182984-54182985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141900211	chr13:54183027-54183028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4126699	chr13:54183070-54183071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566025944	chr13:54183078-54183079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534801093	chr13:54183080-54183081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554835651	chr13:54183081-54183082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185911840	chr13:54183155-54183156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529238294	chr13:54183164-54183165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549600354	chr13:54183233-54183234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150630856	chr13:54183247-54183248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576783284	chr13:54183251-54183252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9536480	chr13:54183266-54183267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559619443	chr13:54183307-54183308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573245142	chr13:54183339-54183340	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54182200-54183600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:54182800-54183600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:54184400-54184800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:54194400-54194600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:54195800-54196600	Enhancers	NH-A	brain
6	chr13:54195800-54198200	Enhancers	Fetal Brain Male	brain
7	chr13:54197600-54200000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:54201000-54201400	Enhancers	Fetal Heart	heart
9	chr13:54203000-54203200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:54204800-54205800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:54205000-54205400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:54205000-54205600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:54205800-54206000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:54210800-54211400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:54211200-54211800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:54211200-54212000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:54211200-54212600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:54211800-54216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:54216400-54216800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:54216400-54216800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:54225200-54225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:54225200-54225600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:54238200-54238400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr13:54238400-54240600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:54264800-54265000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr13:54264800-54265800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:54264800-54266000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:54264800-54266000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:54264800-54266000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:54264800-54266200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:54264800-54266200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:54265000-54265600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:54265000-54266000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:54265000-54266200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:54265600-54266000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:54265600-54266000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:54265600-54266200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr13:54265800-54266200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr13:54265800-54269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr13:54266000-54268800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:54266000-54269000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:54266000-54269000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:54266000-54269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:54266000-54269200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr13:54266000-54287200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:54266200-54268800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr13:54266200-54268800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:54266200-54268800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:54268400-54269400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:54268400-54269800	Enhancers	Cortex derived primary cultured neurospheres	brain

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