Variant report

Variant	esv11662
Chromosome Location	chr13:62020087-62020847
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	chr13:62018252..62020987-chr19:47730290..47733067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105327	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562202936	chr13:62020105-62020106	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572788960	chr13:62020109-62020110	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541357994	chr13:62020126-62020127	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548148105	chr13:62020170-62020171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9570585	chr13:62020176-62020177	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9563921	chr13:62020185-62020186	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552854265	chr13:62020205-62020206	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571062712	chr13:62020241-62020242	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12585223	chr13:62020242-62020243	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550311759	chr13:62020243-62020244	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9563922	chr13:62020269-62020270	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9570586	chr13:62020274-62020275	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374723387	chr13:62020282-62020283	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191059788	chr13:62020307-62020308	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9563923	chr13:62020353-62020354	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552155440	chr13:62020404-62020405	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534089715	chr13:62020424-62020425	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558383731	chr13:62020445-62020446	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576636190	chr13:62020452-62020453	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs9563924	chr13:62020463-62020464	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74080852	chr13:62020466-62020467	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183318868	chr13:62020481-62020482	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9563925	chr13:62020491-62020492	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560093761	chr13:62020520-62020521	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527247422	chr13:62020535-62020536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368784898	chr13:62020583-62020584	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61953294	chr13:62020594-62020595	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187378847	chr13:62020614-62020615	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564736438	chr13:62020669-62020670	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9570587	chr13:62020702-62020703	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550373126	chr13:62020727-62020728	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75429710	chr13:62020833-62020834	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539457079	chr13:62020844-62020845	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Bipolar disorder	19214233	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62019800-62021800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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