Variant report

Variant	esv3399338
Chromosome Location	chr15:77219884-77220389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:77220118-77220183	A549	lung:	n/a	n/a
2	POLR2A	chr15:77220113-77220178	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:77220093-77220227	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77195473..77197812-chr15:77219400..77222194,2	K562	blood:
2	chr15:77212090..77213941-chr15:77219796..77221524,2	K562	blood:

Variant related genes	Relation type
RCN2	TF binding region
ENSG00000140386	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150231239	chr15:77219929-77219930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543304553	chr15:77219936-77219937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555295741	chr15:77219946-77219947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147900514	chr15:77219966-77219967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28421596	chr15:77219982-77219983	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573439157	chr15:77219993-77219994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75296253	chr15:77219995-77219996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376488903	chr15:77219999-77220000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112514280	chr15:77220057-77220058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541023154	chr15:77220068-77220069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115013969	chr15:77220076-77220077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562695825	chr15:77220104-77220105	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141786984	chr15:77220105-77220106	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28618274	chr15:77220243-77220244	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530652505	chr15:77220244-77220245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186156471	chr15:77220261-77220262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112596228	chr15:77220262-77220263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552690343	chr15:77220283-77220284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147082457	chr15:77220318-77220319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574467471	chr15:77220355-77220356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3992016	chr15:77220356-77220357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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