Variant report

Variant	esv3389813
Chromosome Location	chr15:75561599-75567197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75321592..75322142-chr15:75566565..75567153,2	MCF-7	breast:
2	chr15:74600289..74600861-chr15:75566666..75567634,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAN2C1-9	chr15:75564454-75564996	ncRnaDb_ncrna_FR096405_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GOLGA6A	hsa-miR-192-5p	chr15:75562833-75562852

Extended variants
information (count: 32 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544294793	chr15:75564811-75564812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs375268422	chr15:75564902-75564903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573833100	chr15:75566219-75566220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544331398	chr15:75566226-75566227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562430738	chr15:75566278-75566279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369822176	chr15:75566282-75566283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532988497	chr15:75566323-75566324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544654073	chr15:75566334-75566335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560061696	chr15:75566501-75566502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527999584	chr15:75566507-75566508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149275121	chr15:75566543-75566544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201133732	chr15:75566616-75566617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549222075	chr15:75566633-75566634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561157792	chr15:75566636-75566637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77793564	chr15:75566686-75566687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531780152	chr15:75566697-75566698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549909103	chr15:75566719-75566720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571629688	chr15:75566729-75566730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539058891	chr15:75566855-75566856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547488570	chr15:75566925-75566926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2636848	chr15:75566940-75566941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566035682	chr15:75566972-75566973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534083697	chr15:75566974-75566975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148410161	chr15:75566978-75566979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555659249	chr15:75567026-75567027	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs573919895	chr15:75567065-75567066	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2415173	chr15:75567090-75567091	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs3030547	chr15:75567095-75567096	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs1283980	chr15:75567100-75567101	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs2415174	chr15:75567148-75567149	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2899801	chr15:75567152-75567153	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs556249725	chr15:75567188-75567189	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
small cell lung cancer	20016488	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
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75566200-75567200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr15:75566400-75568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:75566600-75567200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr15:75566600-75567200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:75566800-75567200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:75566800-75567400	Enhancers	Liver	Liver
7	chr15:75567000-75567200	Enhancers	Spleen	Spleen
8	chr15:75567000-75567200	Bivalent Enhancer	HepG2	liver
9	chr15:75567000-75567400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:75567000-75567400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr15:75567000-75567600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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