Variant report

Variant	esv3428346
Chromosome Location	chr13:61550376-61553324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs557638437	chr13:61550388-61550389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569539820	chr13:61550392-61550393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186150604	chr13:61550410-61550411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190962885	chr13:61550417-61550418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573233721	chr13:61550447-61550448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540360134	chr13:61550468-61550469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558641221	chr13:61550492-61550493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181995005	chr13:61550546-61550547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149999817	chr13:61550600-61550601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558006703	chr13:61550646-61550647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578033842	chr13:61550684-61550685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542455891	chr13:61550692-61550693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561166538	chr13:61550780-61550781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528160826	chr13:61550788-61550789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374498268	chr13:61550793-61550794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138681601	chr13:61550815-61550816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56707135	chr13:61550819-61550820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376909979	chr13:61550862-61550863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186006325	chr13:61550864-61550865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146578997	chr13:61550906-61550907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73203728	chr13:61550908-61550909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550633957	chr13:61550939-61550940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202013333	chr13:61550941-61550942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569445899	chr13:61550942-61550943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562250314	chr13:61550957-61550958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61596062	chr13:61550965-61550966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3051783	chr13:61550973-61550974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200916422	chr13:61550974-61550975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141171668	chr13:61551028-61551029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144987602	chr13:61551032-61551033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190931264	chr13:61551060-61551061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2770909	chr13:61551100-61551101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533180868	chr13:61551111-61551112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77451249	chr13:61551158-61551159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576933984	chr13:61551183-61551184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3884484	chr13:61551190-61551191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2671872	chr13:61551200-61551201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138836136	chr13:61551236-61551237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149108357	chr13:61551239-61551240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183088143	chr13:61551284-61551285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573049558	chr13:61551315-61551316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540434683	chr13:61551333-61551334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564960264	chr13:61551379-61551380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532289954	chr13:61551391-61551392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550283873	chr13:61551398-61551399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200128680	chr13:61551400-61551401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574488371	chr13:61551813-61551814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182395877	chr13:61551841-61551842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187202139	chr13:61551861-61551862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111216616	chr13:61551862-61551863	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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