Variant report

Variant	nsv984089
Chromosome Location	chr15:72350806-72352174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565835551	chr15:72350955-72350956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371020339	chr15:72350985-72350986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534057943	chr15:72351011-72351012	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570662636	chr15:72351020-72351021	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570942135	chr15:72351043-72351044	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35554838	chr15:72351044-72351045	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553535581	chr15:72351049-72351050	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189351971	chr15:72351050-72351051	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536197149	chr15:72351071-72351072	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534779254	chr15:72351090-72351091	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368791214	chr15:72351106-72351107	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181718559	chr15:72351255-72351256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574093501	chr15:72351270-72351271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552911351	chr15:72351307-72351308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371533960	chr15:72351347-72351348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185157068	chr15:72351384-72351385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369337727	chr15:72351414-72351415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115966734	chr15:72351490-72351491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559130174	chr15:72351514-72351515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189310304	chr15:72351519-72351520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535526056	chr15:72351542-72351543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55982594	chr15:72351576-72351577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139525091	chr15:72351588-72351589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374845760	chr15:72351660-72351661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556595876	chr15:72351784-72351785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115468168	chr15:72351880-72351881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530778169	chr15:72351884-72351885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552563869	chr15:72351899-72351900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564378959	chr15:72352048-72352049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528597743	chr15:72352075-72352076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	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
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72300000-72351000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:72301000-72361200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:72333200-72353800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:72334000-72355000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:72338800-72352800	Weak transcription	Left Ventricle	heart
6	chr15:72338800-72353000	Weak transcription	Placenta	Placenta
7	chr15:72339000-72352800	Weak transcription	Ovary	ovary
8	chr15:72339000-72353000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72339000-72353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:72339000-72363400	Weak transcription	Primary B cells from cord blood	blood
11	chr15:72342000-72352800	Weak transcription	Right Atrium	heart
12	chr15:72342800-72352800	Weak transcription	Thymus	Thymus
13	chr15:72343800-72353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:72344000-72355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:72344400-72353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72344400-72353600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:72344800-72353200	Weak transcription	Lung	lung
18	chr15:72345000-72352800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:72345200-72352800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:72345200-72352800	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:72345200-72353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:72345200-72353000	Weak transcription	Esophagus	oesophagus
23	chr15:72345200-72353000	Weak transcription	Fetal Stomach	stomach
24	chr15:72345400-72353200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:72349400-72351800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:72349600-72351400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr15:72349600-72351400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:72349600-72356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:72349800-72351000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:72349800-72351600	Enhancers	Fetal Intestine Small	intestine
31	chr15:72350200-72351000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:72350200-72351600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:72350200-72351600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr15:72350200-72352800	Weak transcription	HSMMtube	muscle
35	chr15:72350200-72353000	Weak transcription	Right Ventricle	heart
36	chr15:72350200-72353200	Weak transcription	Stomach Mucosa	stomach
37	chr15:72350200-72355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:72350400-72351000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:72350400-72351000	Enhancers	Brain Angular Gyrus	brain
40	chr15:72350400-72351000	Enhancers	Osteobl	bone
41	chr15:72350400-72351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:72350400-72351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:72350400-72351400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr15:72350400-72351400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:72350400-72351400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:72350400-72351400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:72350400-72351400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:72350400-72352800	Weak transcription	Liver	Liver
49	chr15:72350400-72352800	Weak transcription	Psoas Muscle	Psoas
50	chr15:72350400-72352800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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