Variant report

Variant	esv1801476
Chromosome Location	chr13:61551100-61553581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 221 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs2770909	chr13:61551100-61551101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533180868	chr13:61551111-61551112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77451249	chr13:61551158-61551159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576933984	chr13:61551183-61551184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3884484	chr13:61551190-61551191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2671872	chr13:61551200-61551201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138836136	chr13:61551236-61551237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149108357	chr13:61551239-61551240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183088143	chr13:61551284-61551285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573049558	chr13:61551315-61551316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540434683	chr13:61551333-61551334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564960264	chr13:61551379-61551380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532289954	chr13:61551391-61551392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550283873	chr13:61551398-61551399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200128680	chr13:61551400-61551401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574488371	chr13:61551813-61551814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182395877	chr13:61551841-61551842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187202139	chr13:61551861-61551862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111216616	chr13:61551862-61551863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180947874	chr13:61551871-61551872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534136070	chr13:61551883-61551884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559745828	chr13:61551884-61551885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527964632	chr13:61551886-61551887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201269469	chr13:61551887-61551888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546055730	chr13:61551890-61551891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538175610	chr13:61551894-61551895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185559787	chr13:61551903-61551904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564464156	chr13:61551905-61551906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568969990	chr13:61551906-61551907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531409913	chr13:61551907-61551908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550118741	chr13:61551912-61551913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144847514	chr13:61551916-61551917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190180497	chr13:61551917-61551918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568535498	chr13:61551918-61551919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529393890	chr13:61551919-61551920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148548742	chr13:61551920-61551921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182774125	chr13:61551923-61551924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199758118	chr13:61551927-61551928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547795816	chr13:61551938-61551939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574757100	chr13:61551939-61551940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs186080132	chr13:61551942-61551943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142923821	chr13:61551946-61551947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567267630	chr13:61551947-61551948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558840970	chr13:61551949-61551950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536390428	chr13:61551955-61551956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs556300258	chr13:61551964-61551965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374628774	chr13:61551968-61551969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146621008	chr13:61551972-61551973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536598211	chr13:61551993-61551994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190795957	chr13:61551994-61551995	ZNF genes & repeats	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61549200-61551400	Enhancers	Fetal Heart	heart
2	chr13:61551800-61552800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:61552800-61564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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