Variant report

Variant	esv3509843
Chromosome Location	chr15:56364401-56364884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375120784	chr15:56364411-56364412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536727734	chr15:56364424-56364425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550233640	chr15:56364440-56364441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570229032	chr15:56364461-56364462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539205884	chr15:56364467-56364468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369366619	chr15:56364469-56364470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552894616	chr15:56364490-56364491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145961784	chr15:56364505-56364506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535423734	chr15:56364521-56364522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554929834	chr15:56364525-56364526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74884485	chr15:56364527-56364528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57110500	chr15:56364529-56364530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185577214	chr15:56364552-56364553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139849163	chr15:56364577-56364578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557454974	chr15:56364669-56364670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577420669	chr15:56364695-56364696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541309600	chr15:56364699-56364700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546377447	chr15:56364715-56364716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559739206	chr15:56364751-56364752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11630710	chr15:56364758-56364759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112780240	chr15:56364784-56364785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113950016	chr15:56364788-56364789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562068108	chr15:56364798-56364799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530391598	chr15:56364813-56364814	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143284834	chr15:56364829-56364830	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78469549	chr15:56364833-56364834	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570165347	chr15:56364854-56364855	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188387878	chr15:56364870-56364871	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76321433	chr15:56364879-56364880	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56363600-56383800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr15:56364800-56365200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr15:56364800-56365200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr15:56364800-56365200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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