Variant report

Variant	nsv827307
Chromosome Location	chr15:42323953-42324692
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	chr15:42321125..42324302-chr15:42342047..42344637,3	K562	blood:
2	chr15:42318244..42322022-chr15:42323761..42326594,4	K562	blood:

Variant related genes	Relation type
ENSG00000188089	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533617570	chr15:42323966-42323967	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573279073	chr15:42324003-42324004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545527794	chr15:42324004-42324005	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553739584	chr15:42324007-42324008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576718612	chr15:42324008-42324009	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186292255	chr15:42324018-42324019	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556478949	chr15:42324023-42324024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111489078	chr15:42324064-42324065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556425976	chr15:42324139-42324140	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148619980	chr15:42324149-42324150	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11632564	chr15:42324152-42324153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11632634	chr15:42324158-42324159	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142068244	chr15:42324184-42324185	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564506435	chr15:42324211-42324212	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146747971	chr15:42324247-42324248	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543825220	chr15:42324317-42324318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562802862	chr15:42324321-42324322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544888475	chr15:42324343-42324344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531609367	chr15:42324405-42324406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548421819	chr15:42324409-42324410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7179219	chr15:42324479-42324480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs189884996	chr15:42324504-42324505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373748076	chr15:42324550-42324551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547221679	chr15:42324593-42324594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182148791	chr15:42324622-42324623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185789934	chr15:42324647-42324648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572371543	chr15:42324683-42324684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42320000-42324000	Weak transcription	Psoas Muscle	Psoas
2	chr15:42320400-42327200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:42322000-42324000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:42322000-42324200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:42322000-42324200	Enhancers	NHEK	skin
6	chr15:42322000-42327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:42322200-42324200	Enhancers	HMEC	breast
8	chr15:42322400-42324200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:42322600-42324600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:42322800-42324200	Weak transcription	Esophagus	oesophagus
11	chr15:42323600-42325000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr15:42323800-42325400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr15:42324000-42326200	Enhancers	Psoas Muscle	Psoas
14	chr15:42324200-42324600	Weak transcription	HMEC	breast
15	chr15:42324200-42326600	Weak transcription	NHEK	skin
16	chr15:42324200-42327800	Enhancers	Esophagus	oesophagus
17	chr15:42324600-42324800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:42324600-42324800	Enhancers	GM12878-XiMat	blood
19	chr15:42324600-42325400	Enhancers	Right Ventricle	heart
20	chr15:42324600-42325600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:42324600-42325800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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