Variant report

Variant	esv3389069
Chromosome Location	chr15:58706804-58707020
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	chr15:58623889..58626326-chr15:58704441..58709164,4	K562	blood:
2	chr15:58706598..58709949-chr15:58711625..58715312,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556705687	chr15:58706814-58706815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181611413	chr15:58706825-58706826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs414846	chr15:58706846-58706847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563836781	chr15:58706850-58706851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532775192	chr15:58706872-58706873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552680914	chr15:58706873-58706874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186990200	chr15:58706897-58706898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118151833	chr15:58706904-58706905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62000869	chr15:58706911-58706912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs409668	chr15:58706926-58706927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs370330984	chr15:58706966-58706967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537320324	chr15:58707013-58707014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58694800-58716000	Weak transcription	Esophagus	oesophagus
2	chr15:58703000-58712800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:58703400-58707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:58703400-58718600	Weak transcription	Primary T cells from cord blood	blood
5	chr15:58704600-58728800	Weak transcription	Thymus	Thymus
6	chr15:58704800-58711200	Weak transcription	Liver	Liver
7	chr15:58705000-58707600	Weak transcription	Dnd41	blood
8	chr15:58705800-58707800	Weak transcription	K562	blood

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