Variant report

Variant	nsv976917
Chromosome Location	chr15:33304533-33305921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33298305..33300128-chr15:33304629..33307307,2	MCF-7	breast:
2	chr15:33305189..33307511-chr15:33365399..33368264,2	MCF-7	breast:
3	chr15:33297830..33309224-chr15:33355310..33362883,25	MCF-7	breast:
4	chr15:33304810..33307499-chr15:33358975..33362023,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248905	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57464882	chr15:33304544-33304545	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370274130	chr15:33304553-33304554	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148720957	chr15:33304557-33304558	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541445769	chr15:33304610-33304611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551125577	chr15:33304613-33304614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569320680	chr15:33304639-33304640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559794055	chr15:33304651-33304652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555117498	chr15:33304661-33304662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141770847	chr15:33304664-33304665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575118409	chr15:33304716-33304717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534181080	chr15:33304730-33304731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558814761	chr15:33304732-33304733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs59506201	chr15:33304734-33304735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184260298	chr15:33304756-33304757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28548712	chr15:33304768-33304769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575262595	chr15:33304777-33304778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143424868	chr15:33304794-33304795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74014138	chr15:33304805-33304806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6494831	chr15:33304819-33304820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146695039	chr15:33304831-33304832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565157832	chr15:33304899-33304900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6494832	chr15:33304903-33304904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116286506	chr15:33304923-33304924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569275279	chr15:33304929-33304930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536703964	chr15:33304932-33304933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548506793	chr15:33304936-33304937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs345825	chr15:33304954-33304955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186665924	chr15:33304955-33304956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558849888	chr15:33304968-33304969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114332634	chr15:33304985-33304986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6494834	chr15:33304999-33305000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115225803	chr15:33305037-33305038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74014139	chr15:33305063-33305064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542750533	chr15:33305066-33305067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139151234	chr15:33305067-33305068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573104700	chr15:33305121-33305122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540414864	chr15:33305142-33305143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531990059	chr15:33305160-33305161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532421930	chr15:33305180-33305181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544283480	chr15:33305182-33305183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144047869	chr15:33305205-33305206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530031734	chr15:33305232-33305233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548710598	chr15:33305248-33305249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566603786	chr15:33305321-33305322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527913237	chr15:33305329-33305330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79491750	chr15:33305330-33305331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570829635	chr15:33305336-33305337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75919903	chr15:33305353-33305354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11637853	chr15:33305360-33305361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73374820	chr15:33305409-33305410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33288800-33309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:33299800-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:33300400-33314200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:33300600-33314400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:33301200-33305800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:33301200-33306400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:33301200-33308800	Weak transcription	Aorta	Aorta
8	chr15:33301600-33305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:33301600-33305600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:33301600-33305800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:33301600-33305800	Weak transcription	NH-A	brain
12	chr15:33301600-33305800	Weak transcription	Osteobl	bone
13	chr15:33301600-33306000	Weak transcription	NHDF-Ad	bronchial
14	chr15:33301600-33306200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:33301600-33306200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:33301600-33306400	Weak transcription	Stomach Mucosa	stomach
17	chr15:33301600-33308800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:33301600-33314400	Weak transcription	Gastric	stomach
19	chr15:33301800-33306000	Weak transcription	NHLF	lung
20	chr15:33302200-33314400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:33304000-33304600	Genic enhancers	Thymus	Thymus
22	chr15:33304200-33305800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:33304200-33306800	Enhancers	HSMM	muscle
24	chr15:33304200-33309600	Enhancers	Fetal Thymus	thymus
25	chr15:33304400-33304800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:33304400-33305000	Enhancers	HSMMtube	muscle
27	chr15:33304600-33306200	Weak transcription	Thymus	Thymus
28	chr15:33304800-33305000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:33304800-33307000	Enhancers	HMEC	breast
30	chr15:33305000-33306000	Weak transcription	HSMMtube	muscle
31	chr15:33305000-33312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:33305200-33307200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:33305400-33308400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr15:33305600-33306600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:33305600-33307000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:33305800-33306200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:33305800-33306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:33305800-33306600	Enhancers	NH-A	brain
39	chr15:33305800-33306800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:33305800-33306800	Enhancers	HUVEC	blood vessel
41	chr15:33305800-33306800	Enhancers	Osteobl	bone
42	chr15:33305800-33307000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:33305800-33307000	Enhancers	A549	lung
44	chr15:33305800-33307000	Enhancers	NHEK	skin
45	chr15:33305800-33307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:33305800-33307200	Enhancers	Hela-S3	cervix

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