Variant report

Variant	esv3419655
Chromosome Location	chr13:70259376-70261924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76985307	chr13:70259380-70259381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183988214	chr13:70259503-70259504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372580156	chr13:70259512-70259513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575401745	chr13:70259516-70259517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539802553	chr13:70259546-70259547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200223899	chr13:70259559-70259560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376456427	chr13:70259560-70259561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9572236	chr13:70259584-70259585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528540707	chr13:70259608-70259609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570336461	chr13:70259628-70259629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546621188	chr13:70259633-70259634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140283524	chr13:70259650-70259651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572147606	chr13:70259707-70259708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34085705	chr13:70259713-70259714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188424787	chr13:70259755-70259756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557385626	chr13:70259794-70259795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565293391	chr13:70259808-70259809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373754157	chr13:70259853-70259854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180904267	chr13:70259873-70259874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185016442	chr13:70260010-70260011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551258289	chr13:70260024-70260025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76411941	chr13:70260035-70260036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9572237	chr13:70260138-70260139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192411071	chr13:70260174-70260175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182086846	chr13:70260185-70260186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530357588	chr13:70260210-70260211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548799069	chr13:70260231-70260232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548784097	chr13:70260237-70260238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112021394	chr13:70260238-70260239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528242398	chr13:70260266-70260267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567398066	chr13:70260268-70260269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564537321	chr13:70260286-70260287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533387318	chr13:70260290-70260291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550177343	chr13:70260306-70260307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570398676	chr13:70260315-70260316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199816343	chr13:70260326-70260327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199900222	chr13:70260330-70260331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371734996	chr13:70260335-70260336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377389101	chr13:70260336-70260337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535765937	chr13:70260352-70260353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141549503	chr13:70260355-70260356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549603249	chr13:70260371-70260372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138405969	chr13:70260375-70260376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12560587	chr13:70260408-70260409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201838918	chr13:70260481-70260482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369366036	chr13:70260482-70260483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369783981	chr13:70260485-70260486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557590913	chr13:70260503-70260504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71449295	chr13:70260587-70260588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28513760	chr13:70260598-70260599	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70257800-70259600	Enhancers	Fetal Intestine Large	intestine
2	chr13:70257800-70259600	Enhancers	Fetal Intestine Small	intestine
3	chr13:70258000-70259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:70258200-70259400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:70258200-70259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:70258600-70259800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:70258600-70260000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:70258800-70263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:70259400-70259800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:70259400-70259800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:70259400-70265000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:70259600-70260800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:70259800-70262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:70259800-70264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:70259800-70264800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:70260000-70264600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:70260800-70261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:70261400-70261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:70261800-70262600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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