Variant report

Variant	esv3411609
Chromosome Location	chr13:61334947-61335407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553310394	chr13:61334988-61334989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377334872	chr13:61335027-61335028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537428751	chr13:61335030-61335031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190272823	chr13:61335034-61335035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568633530	chr13:61335068-61335069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536148668	chr13:61335079-61335080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553906205	chr13:61335087-61335088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572294650	chr13:61335176-61335177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546034943	chr13:61335200-61335201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557804705	chr13:61335211-61335212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576160308	chr13:61335231-61335232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563861649	chr13:61335233-61335234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543415440	chr13:61335237-61335238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532872384	chr13:61335241-61335242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182746062	chr13:61335247-61335248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150567340	chr13:61335251-61335252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2175869	chr13:61335312-61335313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560477974	chr13:61335337-61335338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Non-small cell lung cancer	16651412	CNVD
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61330400-61335000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:61332600-61339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:61333000-61339400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:61333800-61339400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:61333800-61340000	Weak transcription	HMEC	breast
6	chr13:61334000-61339400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:61334200-61335000	Enhancers	HUVEC	blood vessel
8	chr13:61334600-61335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:61334600-61339200	Weak transcription	Fetal Heart	heart
10	chr13:61334600-61339400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:61334600-61339800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:61334600-61339800	Weak transcription	NHEK	skin
13	chr13:61335000-61339800	Weak transcription	HUVEC	blood vessel

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