Variant report

Variant	nsv95142
Chromosome Location	chr15:51012105-51012109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51009835..51012305-chr15:51016977..51018499,2	MCF-7	breast:
2	chr15:51002504..51004008-chr15:51010969..51013799,2	MCF-7	breast:
3	chr15:51004977..51007161-chr15:51010483..51012448,2	K562	blood:
4	chr15:50977407..50979658-chr15:51010048..51012162,3	MCF-7	breast:
5	chr15:51005061..51007555-chr15:51010952..51013855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	chromatin interactions
ENSG00000138600	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191335196	chr15:51012105-51012106	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50979800-51014000	Weak transcription	Right Ventricle	heart
2	chr15:50980400-51013600	Weak transcription	Fetal Lung	lung
3	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
4	chr15:50988200-51021600	Weak transcription	Pancreas	Pancrea
5	chr15:50990000-51013600	Weak transcription	A549	lung
6	chr15:50990000-51015400	Weak transcription	NH-A	brain
7	chr15:50990000-51038800	Weak transcription	NHLF	lung
8	chr15:50990200-51021600	Weak transcription	Psoas Muscle	Psoas
9	chr15:50991200-51013200	Weak transcription	Lung	lung
10	chr15:50991600-51033600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:50995000-51026400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:50995400-51012200	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:50995400-51017800	Weak transcription	HUVEC	blood vessel
14	chr15:50995600-51013200	Weak transcription	Aorta	Aorta
15	chr15:50995600-51046000	Weak transcription	Small Intestine	intestine
16	chr15:50995800-51013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:50996000-51012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:50997000-51017200	Weak transcription	Brain Anterior Caudate	brain
19	chr15:50997000-51044800	Weak transcription	K562	blood
20	chr15:50997400-51025000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:50997600-51033600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:50998200-51026800	Weak transcription	HMEC	breast
23	chr15:50998800-51043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:50999000-51012200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:50999000-51021600	Weak transcription	Dnd41	blood
26	chr15:50999200-51027400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:50999200-51041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:50999600-51021600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:50999800-51043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:51000000-51045000	Weak transcription	NHEK	skin
31	chr15:51000600-51013000	Weak transcription	Brain Germinal Matrix	brain
32	chr15:51000600-51013200	Weak transcription	Thymus	Thymus
33	chr15:51000600-51039200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:51002000-51013200	Weak transcription	Spleen	Spleen
35	chr15:51004000-51056200	Weak transcription	Brain Angular Gyrus	brain
36	chr15:51004800-51028800	Weak transcription	Gastric	stomach
37	chr15:51005400-51018600	Weak transcription	Stomach Mucosa	stomach
38	chr15:51005400-51026200	Weak transcription	Fetal Brain Male	brain
39	chr15:51005800-51012600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:51005800-51020600	Strong transcription	Placenta	Placenta
41	chr15:51006800-51012800	Strong transcription	Primary B cells from cord blood	blood
42	chr15:51006800-51020600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:51007400-51026600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:51008200-51013200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:51008400-51013600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:51008800-51017400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:51008800-51017600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:51008800-51033000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:51009000-51012600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:51009000-51014400	Strong transcription	GM12878-XiMat	blood

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