Variant report

Variant	nsv977355
Chromosome Location	chr13:70257747-70263833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77151085	chr13:70257764-70257765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546451989	chr13:70257792-70257793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75226489	chr13:70257881-70257882	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576251567	chr13:70257885-70257886	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541948111	chr13:70257916-70257917	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561586603	chr13:70257967-70257968	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546584421	chr13:70257980-70257981	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35291105	chr13:70258022-70258023	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs397762970	chr13:70258027-70258028	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572883818	chr13:70258037-70258038	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376605894	chr13:70258047-70258048	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200191908	chr13:70258052-70258053	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542066202	chr13:70258182-70258183	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561848760	chr13:70258226-70258227	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540642704	chr13:70258336-70258337	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149047779	chr13:70258343-70258344	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs60736409	chr13:70258394-70258395	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183691699	chr13:70258421-70258422	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187964505	chr13:70258425-70258426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs80124800	chr13:70258449-70258450	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548674113	chr13:70258458-70258459	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs56168638	chr13:70258473-70258474	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142173516	chr13:70258489-70258490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs35706635	chr13:70258498-70258499	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373307492	chr13:70258610-70258611	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs75630916	chr13:70258617-70258618	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553863075	chr13:70258716-70258717	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368578630	chr13:70258725-70258726	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9529618	chr13:70258745-70258746	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555510412	chr13:70258746-70258747	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556848941	chr13:70258885-70258886	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs193074945	chr13:70258914-70258915	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542024310	chr13:70258949-70258950	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555460735	chr13:70258961-70258962	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185403810	chr13:70258962-70258963	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534652718	chr13:70258965-70258966	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189941051	chr13:70258968-70258969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181626270	chr13:70258974-70258975	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs151203724	chr13:70259042-70259043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75607285	chr13:70259073-70259074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9542023	chr13:70259074-70259075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563204621	chr13:70259096-70259097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112641500	chr13:70259164-70259165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112891410	chr13:70259179-70259180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9542024	chr13:70259185-70259186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77425230	chr13:70259275-70259276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78433360	chr13:70259299-70259300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548880024	chr13:70259313-70259314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77648238	chr13:70259317-70259318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527772513	chr13:70259345-70259346	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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70255800-70258800	Active TSS	K562	blood
2	chr13:70257800-70259600	Enhancers	Fetal Intestine Large	intestine
3	chr13:70257800-70259600	Enhancers	Fetal Intestine Small	intestine
4	chr13:70258000-70258400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:70258000-70258800	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:70258000-70259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:70258000-70259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:70258200-70258600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:70258200-70258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:70258200-70259400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:70258200-70259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:70258600-70259000	Active TSS	GM12878-XiMat	blood
13	chr13:70258600-70259800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:70258600-70260000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:70258800-70263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:70259400-70259800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:70259400-70259800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:70259400-70265000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:70259600-70260800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:70259800-70262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:70259800-70264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr13:70259800-70264800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:70260000-70264600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:70260800-70261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:70261400-70261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:70261800-70262600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:70262200-70262800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:70263800-70264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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