Variant report

Variant	nsv526982
Chromosome Location	chr15:42332784-42333025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42331924..42337463-chr15:42338362..42343947,6	K562	blood:
2	chr15:42331769..42334435-chr15:42336199..42338428,2	MCF-7	breast:
3	chr15:42302667..42304179-chr15:42329977..42332936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188089	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4924608	chr15:42332784-42332785	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367640898	chr15:42332785-42332786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565566516	chr15:42332789-42332790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531166011	chr15:42332792-42332793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188127772	chr15:42332821-42332822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192254500	chr15:42332835-42332836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561453143	chr15:42332865-42332866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541440452	chr15:42332890-42332891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546981392	chr15:42332895-42332896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1712427	chr15:42332903-42332904	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570240829	chr15:42332906-42332907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72726102	chr15:42332937-42332938	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139640486	chr15:42332938-42332939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4924609	chr15:42333025-42333026	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42326200-42337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:42328000-42337400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:42329000-42333600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42329000-42335400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:42329000-42336600	Weak transcription	Spleen	Spleen
6	chr15:42330200-42339600	Weak transcription	Lung	lung
7	chr15:42330800-42333600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:42331000-42335000	Weak transcription	Pancreas	Pancrea
9	chr15:42331000-42337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:42331000-42341000	Weak transcription	Esophagus	oesophagus
11	chr15:42333000-42341000	Weak transcription	Right Atrium	heart

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