Variant report

Variant	nsv519033
Chromosome Location	chr15:46012120-46012695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

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	rs12901441	chr15:46012120-46012121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187990184	chr15:46012129-46012130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537778086	chr15:46012162-46012163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554419012	chr15:46012165-46012166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs655385	chr15:46012198-46012199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563241981	chr15:46012205-46012206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113740445	chr15:46012227-46012228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs654994	chr15:46012269-46012270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs182136425	chr15:46012361-46012362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79885006	chr15:46012377-46012378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556228957	chr15:46012403-46012404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576084855	chr15:46012427-46012428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544941820	chr15:46012441-46012442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561525935	chr15:46012452-46012453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187662982	chr15:46012453-46012454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540518806	chr15:46012536-46012537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs694299	chr15:46012563-46012564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532534485	chr15:46012583-46012584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191930454	chr15:46012593-46012594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183804735	chr15:46012622-46012623	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs186010690	chr15:46012689-46012690	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs72717126	chr15:46012690-46012691	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145969115	chr15:46012693-46012694	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs693980	chr15:46012695-46012696	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46007200-46016400	Weak transcription	Gastric	stomach
2	chr15:46011600-46012200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr15:46012000-46020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:46012200-46020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr15:46012600-46013800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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