Variant report

Variant	nsv455958
Chromosome Location	chr13:69448114-69481733
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69342465..69344656-chr13:69450218..69452422,2	K562	blood:
2	chr13:69443623..69445703-chr13:69462131..69463652,2	K562	blood:
3	chr13:69468479..69470579-chr13:69472768..69475321,2	MCF-7	breast:
4	chr13:69468479..69470579-chr13:69472768..69475321,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-1	chr13:69459309-69459457	XLOC_010651
2	lnc-KLHL1-1	chr13:69459309-69459457	NONHSAT034238

No data

Extended variants
information (count: 990 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9592570	chr13:69448114-69448115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560315402	chr13:69448119-69448120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546590453	chr13:69448132-69448133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563473608	chr13:69448148-69448149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529335119	chr13:69448151-69448152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560849830	chr13:69448174-69448175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191352599	chr13:69448244-69448245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528643962	chr13:69448251-69448252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9541599	chr13:69448298-69448299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375007144	chr13:69448332-69448333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530550418	chr13:69448396-69448397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112370654	chr13:69448607-69448608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186860959	chr13:69448633-69448634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575176592	chr13:69448674-69448675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369178366	chr13:69448680-69448681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556929827	chr13:69448722-69448723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191275288	chr13:69448723-69448724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78137398	chr13:69448727-69448728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549609733	chr13:69453000-69453001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532391730	chr13:69453006-69453007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568398053	chr13:69453032-69453033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565552727	chr13:69453044-69453045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534570795	chr13:69453095-69453096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386771990	chr13:69453106-69453107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565079479	chr13:69453114-69453115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9541601	chr13:69453116-69453117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371712526	chr13:69453128-69453129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193232773	chr13:69453177-69453178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9592571	chr13:69453186-69453187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573733150	chr13:69453188-69453189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2438448	chr13:69453218-69453219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558347493	chr13:69453230-69453231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9599344	chr13:69453242-69453243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572130463	chr13:69453264-69453265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183726272	chr13:69453276-69453277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564276968	chr13:69453288-69453289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575753086	chr13:69453310-69453311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368806952	chr13:69453369-69453370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139359795	chr13:69453373-69453374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9592572	chr13:69453400-69453401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114717141	chr13:69453410-69453411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149626646	chr13:69453432-69453433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544484167	chr13:69453446-69453447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566338933	chr13:69453478-69453479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144332825	chr13:69453485-69453486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188719365	chr13:69453535-69453536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374305091	chr13:69453546-69453547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555982120	chr13:69453581-69453582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9592573	chr13:69453590-69453591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6562539	chr13:69453591-69453592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69420600-69448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:69448600-69448800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:69453000-69454800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:69458200-69458400	Enhancers	Fetal Brain Male	brain
5	chr13:69458200-69458600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:69458200-69458600	Enhancers	Fetal Brain Female	brain
7	chr13:69458600-69459600	Weak transcription	Fetal Brain Male	brain
8	chr13:69459200-69459600	Enhancers	Brain Hippocampus Middle	brain
9	chr13:69459400-69459600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:69459400-69459800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:69459600-69460000	Enhancers	Fetal Brain Male	brain
12	chr13:69459600-69460400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:69459600-69466800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:69462800-69463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:69463200-69472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:69464000-69467400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:69465600-69465800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:69465800-69471400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:69466600-69467000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:69466600-69467400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:69466800-69467000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:69466800-69467600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:69467000-69467200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:69467000-69467600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:69467000-69467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:69467000-69471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:69467200-69471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:69467200-69471400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:69467400-69467800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:69467400-69471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:69467600-69468200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:69467600-69468600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:69467800-69468200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:69467800-69471600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:69468600-69469000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:69471200-69472200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:69471400-69472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr13:69471400-69472200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr13:69471600-69472000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr13:69471600-69472000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:69471600-69472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:69471600-69472200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr13:69471800-69472200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:69472000-69478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:69472200-69472400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:69472200-69472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:69472400-69473200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr13:69472600-69472800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:69472600-69473400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr13:69478800-69479800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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