Variant report

Variant	esv32725
Chromosome Location	chr15:55064314-55064638
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	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

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	rs71458450	chr15:55064319-55064320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147668026	chr15:55064324-55064325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552305888	chr15:55064330-55064331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76796547	chr15:55064377-55064378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374866413	chr15:55064382-55064383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369355249	chr15:55064396-55064397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372513765	chr15:55064403-55064404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548315681	chr15:55064432-55064433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181611288	chr15:55064438-55064439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536068903	chr15:55064439-55064440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556292673	chr15:55064449-55064450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569864254	chr15:55064450-55064451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538882600	chr15:55064494-55064495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377052474	chr15:55064529-55064530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116015080	chr15:55064532-55064533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572120598	chr15:55064540-55064541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541020606	chr15:55064570-55064571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554741474	chr15:55064622-55064623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76093756	chr15:55064627-55064628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186269790	chr15:55064629-55064630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2651750	chr15:55064630-55064631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55062600-55064400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:55062800-55064400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:55062800-55064800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:55064400-55065000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr15:55064400-55065600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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