Variant report

Variant	esv3363589
Chromosome Location	chr15:57103392-57103829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57098196..57100093-chr15:57101198..57103621,2	K562	blood:
2	chr15:57102473..57104641-chr15:57108016..57110704,2	K562	blood:
3	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551632572	chr15:57103398-57103399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141808313	chr15:57103446-57103447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533474054	chr15:57103460-57103461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549907578	chr15:57103466-57103467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375685684	chr15:57103468-57103469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569989910	chr15:57103494-57103495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532152219	chr15:57103521-57103522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535739999	chr15:57103540-57103541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549248781	chr15:57103543-57103544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11288018	chr15:57103548-57103549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56965085	chr15:57103591-57103592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs111924177	chr15:57103605-57103606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372784725	chr15:57103618-57103619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373680161	chr15:57103630-57103631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185749384	chr15:57103669-57103670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370132391	chr15:57103693-57103694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200128811	chr15:57103737-57103738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553463554	chr15:57103747-57103748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573600417	chr15:57103748-57103749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12910590	chr15:57103754-57103755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35597503	chr15:57103759-57103760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375865437	chr15:57103760-57103761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1660957	chr15:57103779-57103780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192144964	chr15:57103783-57103784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57091200-57104200	Weak transcription	Aorta	Aorta
2	chr15:57099000-57104200	Weak transcription	Ovary	ovary
3	chr15:57100200-57114000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:57100400-57111600	Weak transcription	Thymus	Thymus
5	chr15:57100800-57104000	Weak transcription	Fetal Lung	lung
6	chr15:57102200-57109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:57102600-57109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:57103200-57106200	Weak transcription	Fetal Thymus	thymus
9	chr15:57103600-57104600	Enhancers	Liver	Liver

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