Variant report

Variant	esv3349540
Chromosome Location	chr15:57078815-57079346
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	chr15:57024297..57026872-chr15:57075507..57078884,3	K562	blood:

Variant related genes	Relation type
ENSG00000137871	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558987355	chr15:57078934-57078935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190812914	chr15:57078947-57078948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77335105	chr15:57078992-57078993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372221873	chr15:57079016-57079017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574560912	chr15:57079121-57079122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149935647	chr15:57079241-57079242	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556985495	chr15:57079251-57079252	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576911638	chr15:57079261-57079262	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546050914	chr15:57079310-57079311	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57073000-57086200	Weak transcription	Aorta	Aorta
2	chr15:57078800-57079000	Enhancers	GM12878-XiMat	blood
3	chr15:57078800-57079000	Flanking Active TSS	K562	blood
4	chr15:57078800-57079000	Enhancers	NHDF-Ad	bronchial
5	chr15:57079000-57079200	Flanking Active TSS	GM12878-XiMat	blood
6	chr15:57079000-57079200	Enhancers	K562	blood
7	chr15:57079000-57079200	Flanking Active TSS	NHDF-Ad	bronchial
8	chr15:57079000-57079600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:57079200-57079400	Enhancers	GM12878-XiMat	blood
10	chr15:57079200-57079400	Active TSS	K562	blood
11	chr15:57079200-57079600	Active TSS	NHDF-Ad	bronchial

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