Variant report

Variant	nsv525506
Chromosome Location	chr15:75430526-75431795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75431255..75433122-chr15:75453153..75455982,2	K562	blood:
2	chr15:75430731..75432891-chr15:75456750..75458802,2	MCF-7	breast:
3	chr15:75431213..75434061-chr15:75436868..75439770,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17337944	chr15:75430526-75430527	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80218023	chr15:75430527-75430528	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs567295750	chr15:75430545-75430546	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs74394458	chr15:75430565-75430566	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs557008884	chr15:75430577-75430578	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs569111524	chr15:75430657-75430658	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs539303933	chr15:75430665-75430666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs80134344	chr15:75430713-75430714	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2415159	chr15:75430715-75430716	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540285053	chr15:75430719-75430720	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540149591	chr15:75430725-75430726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs555416413	chr15:75430743-75430744	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs367944574	chr15:75430862-75430863	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs573711488	chr15:75430927-75430928	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs560352673	chr15:75430947-75430948	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs544202781	chr15:75430973-75430974	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs16966775	chr15:75430976-75430977	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533667778	chr15:75430984-75430985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs117026194	chr15:75431005-75431006	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs560688034	chr15:75431059-75431060	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs527801564	chr15:75431066-75431067	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs562158330	chr15:75431075-75431076	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs373682703	chr15:75431088-75431089	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs531290036	chr15:75431124-75431125	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs551481002	chr15:75431152-75431153	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs567406907	chr15:75431170-75431171	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs531623606	chr15:75431212-75431213	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs8032208	chr15:75431245-75431246	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539982804	chr15:75431250-75431251	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140383226	chr15:75431305-75431306	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546881917	chr15:75431315-75431316	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188185172	chr15:75431317-75431318	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144348227	chr15:75431341-75431342	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567126993	chr15:75431355-75431356	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147822916	chr15:75431440-75431441	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371449034	chr15:75431444-75431445	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4567669	chr15:75431486-75431487	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555526667	chr15:75431492-75431493	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573773834	chr15:75431510-75431511	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540443339	chr15:75431562-75431563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536172459	chr15:75431595-75431596	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139147594	chr15:75431644-75431645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs578189526	chr15:75431678-75431679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149946161	chr15:75431679-75431680	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181722886	chr15:75431683-75431684	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs559401944	chr15:75431714-75431715	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs572341313	chr15:75431748-75431749	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs7177045	chr15:75431785-75431786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529772633	chr15:75431788-75431789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs902476	chr15:75431795-75431796	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:75412800-75433600	Weak transcription	Aorta	Aorta
3	chr15:75417800-75430600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:75423400-75431600	Weak transcription	Lung	lung
5	chr15:75427800-75431800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:75428000-75430800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:75428000-75431200	Enhancers	HepG2	liver
8	chr15:75428800-75432600	Weak transcription	Right Atrium	heart
9	chr15:75429000-75430800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:75429000-75431400	Enhancers	GM12878-XiMat	blood
11	chr15:75429400-75431600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:75429600-75430800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr15:75429800-75430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:75429800-75431800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75430000-75431600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:75430200-75430800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:75430200-75431400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:75430200-75431400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:75430200-75431600	Enhancers	Fetal Muscle Leg	muscle
20	chr15:75430200-75431800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:75430200-75431800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr15:75430200-75432000	Enhancers	Placenta	Placenta
23	chr15:75430200-75433000	Enhancers	Ovary	ovary
24	chr15:75430400-75430600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:75430400-75430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:75430400-75430800	Enhancers	NHDF-Ad	bronchial
27	chr15:75430400-75431200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:75430400-75431600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:75430400-75431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:75430400-75431600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:75430400-75431600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:75430400-75431600	Enhancers	Fetal Muscle Trunk	muscle
33	chr15:75430400-75431800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:75430400-75431800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:75430400-75433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:75430600-75430800	Enhancers	Fetal Intestine Large	intestine
37	chr15:75430600-75431000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr15:75430600-75431000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:75430600-75431000	Enhancers	Fetal Thymus	thymus
40	chr15:75430600-75431000	Enhancers	HSMMtube	muscle
41	chr15:75430600-75431000	Enhancers	Osteobl	bone
42	chr15:75430600-75431200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:75430600-75431200	Enhancers	NH-A	brain
44	chr15:75430600-75431400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:75430600-75431400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:75430600-75431400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:75430600-75431600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr15:75430600-75431600	Enhancers	HMEC	breast
49	chr15:75430600-75431800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:75430600-75432000	Enhancers	Spleen	Spleen

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