Variant report

Variant	esv3445372
Chromosome Location	chr13:70020851-70025149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562866909	chr13:70024217-70024218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191845105	chr13:70024229-70024230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79110105	chr13:70024270-70024271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562236489	chr13:70024281-70024282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17608824	chr13:70024284-70024285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147876346	chr13:70024286-70024287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564181077	chr13:70024291-70024292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533027716	chr13:70024315-70024316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141690431	chr13:70024337-70024338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569663766	chr13:70024443-70024444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535091530	chr13:70024493-70024494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549298716	chr13:70024579-70024580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs352238	chr13:70024608-70024609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184113590	chr13:70024650-70024651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561669931	chr13:70024683-70024684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576940046	chr13:70024712-70024713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559236616	chr13:70024750-70024751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577316313	chr13:70024785-70024786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539519638	chr13:70024798-70024799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71429608	chr13:70024806-70024807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149998408	chr13:70024813-70024814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9541941	chr13:70024936-70024937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs57745072	chr13:70024940-70024941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572738227	chr13:70024955-70024956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541660836	chr13:70024968-70024969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9541942	chr13:70025001-70025002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533547134	chr13:70025081-70025082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549885313	chr13:70025102-70025103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541934310	chr13:70025115-70025116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70024200-70024800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:70024400-70024800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:70024400-70024800	Enhancers	Brain Germinal Matrix	brain
4	chr13:70024800-70032000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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