Variant report

Variant	esv1794219
Chromosome Location	chr13:61713469-61718343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:61718056..61720899-chr13:61723464..61726288,2	K562	blood:

Extended variants
information (count: 184 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191643246	chr13:61713564-61713565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9570478	chr13:61713568-61713569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568676351	chr13:61713580-61713581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114240900	chr13:61713594-61713595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537191376	chr13:61713598-61713599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555168140	chr13:61713658-61713659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573608721	chr13:61713660-61713661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540652796	chr13:61713667-61713668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145212071	chr13:61713676-61713677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117724136	chr13:61713697-61713698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564572010	chr13:61713706-61713707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147201490	chr13:61713717-61713718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35515067	chr13:61713721-61713722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376545174	chr13:61713737-61713738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563497088	chr13:61713834-61713835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148628328	chr13:61713858-61713859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543152847	chr13:61713862-61713863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376875042	chr13:61713871-61713872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35488373	chr13:61713876-61713877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142123785	chr13:61713919-61713920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151130258	chr13:61713957-61713958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140100183	chr13:61713959-61713960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368681225	chr13:61713961-61713962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533419761	chr13:61713993-61713994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9563882	chr13:61714010-61714011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373970404	chr13:61714036-61714037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539103135	chr13:61714053-61714054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184258654	chr13:61714126-61714127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188789651	chr13:61714163-61714164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181549591	chr13:61714166-61714167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569914938	chr13:61714225-61714226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536824440	chr13:61714232-61714233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555472733	chr13:61714241-61714242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367782576	chr13:61714259-61714260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560353677	chr13:61714263-61714264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9563883	chr13:61714265-61714266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187138235	chr13:61714286-61714287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369875194	chr13:61714351-61714352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372503272	chr13:61714354-61714355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190379467	chr13:61714401-61714402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536868234	chr13:61714426-61714427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182416521	chr13:61714445-61714446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144015187	chr13:61714451-61714452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568792001	chr13:61714503-61714504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185801440	chr13:61714560-61714561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36043271	chr13:61714563-61714564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66803334	chr13:61714564-61714565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4054755	chr13:61714565-61714566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35702130	chr13:61714570-61714571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542822264	chr13:61714579-61714580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61710600-61716000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:61715800-61716800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr13:61716000-61716800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:61716600-61717000	Enhancers	Fetal Brain Female	brain
5	chr13:61716800-61717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:61716800-61717800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:61716800-61718400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:61717800-61720600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:61718000-61719600	Enhancers	Stomach Smooth Muscle	stomach

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