Variant report

Variant	nsv529006
Chromosome Location	chr15:50405175-50405244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16963311	chr15:50405175-50405176	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374930563	chr15:50405194-50405195	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7168944	chr15:50405244-50405245	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50399200-50407200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:50399800-50407800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50402200-50406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:50402600-50405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:50402600-50407800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr15:50403400-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr15:50403600-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50403800-50405600	Active TSS	Brain Hippocampus Middle	brain
9	chr15:50403800-50411200	Weak transcription	Thymus	Thymus
10	chr15:50404000-50405600	Active TSS	Fetal Muscle Leg	muscle
11	chr15:50404400-50405400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
12	chr15:50404400-50405600	Active TSS	Adipose Nuclei	Adipose
13	chr15:50404400-50405600	Active TSS	Placenta	Placenta
14	chr15:50404400-50406800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr15:50404600-50405200	Weak transcription	Fetal Thymus	thymus
16	chr15:50404600-50405200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr15:50404600-50405400	Active TSS	Duodenum Mucosa	Duodenum
18	chr15:50404600-50405400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr15:50404600-50405800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr15:50404800-50405200	Active TSS	Primary B cells from cord blood	blood
21	chr15:50404800-50405200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr15:50404800-50405400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:50404800-50405400	Active TSS	Stomach Smooth Muscle	stomach
24	chr15:50405000-50405400	Active TSS	Brain Anterior Caudate	brain
25	chr15:50405000-50405400	Enhancers	Spleen	Spleen
26	chr15:50405000-50405400	Weak transcription	K562	blood
27	chr15:50405000-50405600	Active TSS	Liver	Liver
28	chr15:50405000-50405800	Enhancers	GM12878-XiMat	blood
29	chr15:50405200-50405400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr15:50405200-50405600	ZNF genes & repeats	Fetal Thymus	thymus

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