Variant report

Variant	esv3432365
Chromosome Location	chr15:34112493-34113413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:34113165-34113181	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RYR3	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75989976	chr15:34112507-34112508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113833241	chr15:34112551-34112552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553796854	chr15:34112575-34112576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2043054	chr15:34112609-34112610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535020213	chr15:34112643-34112644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553241574	chr15:34112654-34112655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572156621	chr15:34112665-34112666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34715235	chr15:34112668-34112669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539175952	chr15:34112677-34112678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563861641	chr15:34112713-34112714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557574075	chr15:34112748-34112749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143782946	chr15:34112760-34112761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150382578	chr15:34112771-34112772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191861882	chr15:34112780-34112781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1036005	chr15:34112825-34112826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541385734	chr15:34112835-34112836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373243176	chr15:34112851-34112852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1036006	chr15:34112865-34112866	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1036007	chr15:34112906-34112907	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs547692127	chr15:34112911-34112912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183759329	chr15:34112930-34112931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370109114	chr15:34112938-34112939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376367121	chr15:34112941-34112942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188476557	chr15:34112949-34112950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180899760	chr15:34112965-34112966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372045628	chr15:34112976-34112977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200647737	chr15:34112986-34112987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368923826	chr15:34112994-34112995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs118124507	chr15:34113004-34113005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2288613	chr15:34113010-34113011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369689229	chr15:34113011-34113012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373472134	chr15:34113025-34113026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3815965	chr15:34113054-34113055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs376706405	chr15:34113099-34113100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200414050	chr15:34113100-34113101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201449002	chr15:34113101-34113102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199504130	chr15:34113195-34113196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569449800	chr15:34113197-34113198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138070075	chr15:34113215-34113216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149533066	chr15:34113222-34113223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144070925	chr15:34113243-34113244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113338959	chr15:34113244-34113245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8041321	chr15:34113253-34113254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552355318	chr15:34113268-34113269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139917567	chr15:34113278-34113279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544954210	chr15:34113291-34113292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570848916	chr15:34113352-34113353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190704163	chr15:34113356-34113357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114654937	chr15:34113357-34113358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181569689	chr15:34113379-34113380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34061600-34121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:34090600-34151800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:34091800-34151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:34095400-34118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:34097800-34123800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:34104800-34118400	Weak transcription	Brain Germinal Matrix	brain
7	chr15:34105400-34118200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:34105800-34118600	Weak transcription	Aorta	Aorta
9	chr15:34105800-34126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:34106000-34115200	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:34106000-34118400	Weak transcription	Brain Anterior Caudate	brain
12	chr15:34106600-34118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:34107600-34129000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:34110600-34114000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:34110800-34112800	Strong transcription	Fetal Muscle Leg	muscle
16	chr15:34111400-34119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:34112400-34114400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:34112800-34113600	Weak transcription	Fetal Stomach	stomach
19	chr15:34112800-34118600	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links