Variant report

Variant	nsv431382
Chromosome Location	chr15:33873751-33915088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:25611070..25611643-chr15:33884525..33885027,2	MCF-7	breast:
2	chr15:33902112..33903948-chr15:33926108..33928940,2	K562	blood:
3	chr15:33601747..33602901-chr15:33900633..33901527,4	MCF-7	breast:
4	chr15:33904850..33906861-chr15:33932211..33933758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259446	chromatin interactions

Extended variants
information (count: 1819 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1819 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2077268	chr15:33873751-33873752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570514213	chr15:33873758-33873759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372124556	chr15:33873796-33873797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531445275	chr15:33873821-33873822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374944367	chr15:33873853-33873854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8031882	chr15:33873855-33873856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568094533	chr15:33873879-33873880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372882073	chr15:33873881-33873882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140463426	chr15:33873889-33873890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs748298	chr15:33873901-33873902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565655679	chr15:33873903-33873904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539220031	chr15:33873910-33873911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386782819	chr15:33873915-33873916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144668163	chr15:33873916-33873917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183936018	chr15:33873925-33873926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543941042	chr15:33874033-33874034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142800446	chr15:33874049-33874050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574011165	chr15:33874061-33874062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs595477	chr15:33874073-33874074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs560058832	chr15:33874075-33874076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531040245	chr15:33874100-33874101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546290704	chr15:33874129-33874130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147390398	chr15:33874150-33874151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545578873	chr15:33874168-33874169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564508382	chr15:33874190-33874191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563121832	chr15:33874254-33874255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563914935	chr15:33874271-33874272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs877087	chr15:33874275-33874276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10431810	chr15:33874412-33874413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75125417	chr15:33874426-33874427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528850493	chr15:33874456-33874457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148423144	chr15:33874464-33874465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565594492	chr15:33874500-33874501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186823402	chr15:33874508-33874509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551155983	chr15:33874540-33874541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386782820	chr15:33874574-33874575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113738804	chr15:33874576-33874577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78564520	chr15:33874578-33874579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376480533	chr15:33874596-33874597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34145905	chr15:33874615-33874616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75559325	chr15:33874616-33874617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553411941	chr15:33874657-33874658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115205547	chr15:33874700-33874701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545764674	chr15:33874708-33874709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563851481	chr15:33874751-33874752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192356932	chr15:33874760-33874761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568707261	chr15:33874761-33874762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184987279	chr15:33874772-33874773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542871335	chr15:33874805-33874806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140009690	chr15:33874821-33874822	Weak transcription Enhancers	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
Hodgkin''s lymphoma	18641027	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
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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33827400-33877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:33858000-33921200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:33858600-33895200	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:33859200-33923200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:33872000-33874600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:33872200-33874000	Enhancers	Ovary	ovary
7	chr15:33872200-33874000	Enhancers	HMEC	breast
8	chr15:33872200-33874200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:33872200-33878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:33872400-33873800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:33872400-33873800	Enhancers	HSMM	muscle
12	chr15:33872400-33873800	Enhancers	NHEK	skin
13	chr15:33872400-33874000	Enhancers	HSMMtube	muscle
14	chr15:33872400-33875000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:33872600-33873800	Enhancers	Aorta	Aorta
16	chr15:33872600-33873800	Enhancers	Brain Angular Gyrus	brain
17	chr15:33872600-33873800	Enhancers	NHDF-Ad	bronchial
18	chr15:33872600-33874000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:33872600-33874200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr15:33872800-33873800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:33872800-33873800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:33872800-33873800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:33872800-33873800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:33872800-33874000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:33872800-33874000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:33872800-33874000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:33872800-33874000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr15:33872800-33874000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:33872800-33874200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:33873000-33873800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr15:33873000-33873800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr15:33873000-33873800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr15:33873000-33874000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:33873000-33923400	Weak transcription	Brain Anterior Caudate	brain
35	chr15:33873200-33877200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:33873200-33878400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:33873200-33879000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:33873600-33874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr15:33873600-33874000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:33873600-33877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:33873800-33874000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr15:33873800-33876000	Weak transcription	HSMM	muscle
43	chr15:33873800-33878600	Weak transcription	NHEK	skin
44	chr15:33873800-33879000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:33873800-33879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:33873800-33879400	Weak transcription	NHDF-Ad	bronchial
47	chr15:33873800-33895200	Weak transcription	Aorta	Aorta
48	chr15:33874000-33876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:33874000-33877000	Weak transcription	Ovary	ovary
50	chr15:33874000-33877200	Weak transcription	H1 Cell Line	embryonic stem cell

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