Variant report

Variant	nsv976951
Chromosome Location	chr15:75478775-75481114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:75480877-75481307	HepG2	liver:	n/a	chr15:75481143-75481153

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:
2	chr15:75480252..75483954-chr15:75488836..75493083,4	MCF-7	breast:
3	chr15:75480362..75482673-chr15:75494312..75496978,2	K562	blood:
4	chr15:75473895..75476672-chr15:75480654..75483531,2	MCF-7	breast:
5	chr15:75462559..75465453-chr15:75476953..75478984,3	MCF-7	breast:
6	chr15:75479387..75485839-chr15:75491516..75495608,10	MCF-7	breast:
7	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL36AP45	TF binding region
ENSG00000167173	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541190677	chr15:75478783-75478784	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186550657	chr15:75478813-75478814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564712838	chr15:75478891-75478892	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550585820	chr15:75478892-75478893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs398078313	chr15:75478900-75478901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs397853643	chr15:75478901-75478902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529851237	chr15:75478921-75478922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548299871	chr15:75478960-75478961	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569717070	chr15:75479036-75479037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146558353	chr15:75479047-75479048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552605036	chr15:75479104-75479105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571092059	chr15:75479147-75479148	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544784547	chr15:75479168-75479169	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553564179	chr15:75479206-75479207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568550988	chr15:75479276-75479277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535599477	chr15:75479288-75479289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191229327	chr15:75479304-75479305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575241090	chr15:75479321-75479322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539411624	chr15:75479356-75479357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61398553	chr15:75479357-75479358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs28482365	chr15:75479359-75479360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57201524	chr15:75479374-75479375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540954124	chr15:75479375-75479376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183715027	chr15:75479381-75479382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574683501	chr15:75479401-75479402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199670911	chr15:75479406-75479407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs397936066	chr15:75479421-75479422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9744648	chr15:75479422-75479423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145887009	chr15:75479423-75479424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541950065	chr15:75479450-75479451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189301034	chr15:75479576-75479577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530537520	chr15:75479590-75479591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552123365	chr15:75479604-75479605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563909490	chr15:75479605-75479606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535413518	chr15:75479655-75479656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528820194	chr15:75479662-75479663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546975651	chr15:75479695-75479696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113939578	chr15:75479704-75479705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112590578	chr15:75479709-75479710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs397853985	chr15:75479720-75479721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397853650	chr15:75479740-75479741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34822094	chr15:75479741-75479742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11630576	chr15:75479777-75479778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28624413	chr15:75479810-75479811	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571536229	chr15:75479890-75479891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115299837	chr15:75480021-75480022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386383499	chr15:75480062-75480063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs59646876	chr15:75480063-75480064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370596369	chr15:75480069-75480070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372699172	chr15:75480077-75480078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75473000-75478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:75473000-75487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75473200-75483200	Weak transcription	Aorta	Aorta
4	chr15:75473200-75483400	Weak transcription	Left Ventricle	heart
5	chr15:75475400-75487800	Weak transcription	Right Atrium	heart
6	chr15:75475600-75480600	Weak transcription	HepG2	liver
7	chr15:75475600-75481600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:75475600-75487600	Weak transcription	Pancreas	Pancrea
9	chr15:75476400-75479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:75476600-75478800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr15:75476600-75479200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:75476800-75479000	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:75476800-75479800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:75477000-75478800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
16	chr15:75477600-75478800	Enhancers	Fetal Heart	heart
17	chr15:75477600-75478800	Enhancers	Fetal Thymus	thymus
18	chr15:75477800-75478800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:75477800-75478800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:75477800-75479200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr15:75478000-75478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:75478000-75478800	Enhancers	Lung	lung
23	chr15:75478400-75478800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:75478400-75478800	Enhancers	Thymus	Thymus
25	chr15:75478600-75486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:75478800-75480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:75478800-75483400	Weak transcription	Fetal Heart	heart
28	chr15:75479800-75482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:75480600-75481400	Enhancers	HepG2	liver
30	chr15:75480800-75481200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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