Variant report

Variant	nsv977868
Chromosome Location	chr15:44389139-44392712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44371231..44374212-chr15:44389426..44392259,2	MCF-7	breast:
2	chr15:44391833..44394389-chr15:44398230..44401286,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531062065	chr15:44389180-44389181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112043003	chr15:44389234-44389235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189056257	chr15:44389235-44389236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75152662	chr15:44389242-44389243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546700680	chr15:44389298-44389299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540993720	chr15:44389312-44389313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529715375	chr15:44389320-44389321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375630733	chr15:44389345-44389346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569178930	chr15:44389383-44389384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566460925	chr15:44389401-44389402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377675958	chr15:44389448-44389449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185343060	chr15:44389471-44389472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151141547	chr15:44389564-44389565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574548765	chr15:44389588-44389589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141444160	chr15:44389604-44389605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188591583	chr15:44389746-44389747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147000122	chr15:44389756-44389757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545004441	chr15:44389786-44389787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2733221	chr15:44389870-44389871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs2706488	chr15:44389897-44389898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs147619703	chr15:44389936-44389937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561398905	chr15:44390005-44390006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530351376	chr15:44390022-44390023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546871513	chr15:44390103-44390104	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566611488	chr15:44390131-44390132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532200876	chr15:44390218-44390219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552213880	chr15:44390281-44390282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568837264	chr15:44390285-44390286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2042741	chr15:44390286-44390287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371799007	chr15:44390289-44390290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2042740	chr15:44390313-44390314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57800679	chr15:44390318-44390319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74278911	chr15:44390324-44390325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397975533	chr15:44390327-44390328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150433141	chr15:44390328-44390329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148794058	chr15:44390332-44390333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376868377	chr15:44390442-44390443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180672797	chr15:44390467-44390468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142143271	chr15:44390496-44390497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559443474	chr15:44390514-44390515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553638385	chr15:44390521-44390522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150135138	chr15:44390533-44390534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538709171	chr15:44390550-44390551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558548365	chr15:44390552-44390553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138238027	chr15:44390700-44390701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544263077	chr15:44390711-44390712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79886836	chr15:44390721-44390722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386382859	chr15:44390722-44390723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200309481	chr15:44390735-44390736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371344192	chr15:44390736-44390737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44373600-44392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:44379400-44397400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:44381200-44394200	Weak transcription	HUVEC	blood vessel
4	chr15:44381800-44400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:44384600-44393400	Weak transcription	HSMMtube	muscle
6	chr15:44384800-44391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:44384800-44393400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:44385000-44391400	Weak transcription	NHLF	lung
9	chr15:44385000-44392800	Weak transcription	HMEC	breast
10	chr15:44385000-44393400	Weak transcription	A549	lung
11	chr15:44385000-44393400	Weak transcription	HSMM	muscle
12	chr15:44385000-44393600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:44385000-44393600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:44385800-44393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:44386800-44391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:44387400-44391200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:44387400-44392800	Weak transcription	Osteobl	bone
18	chr15:44387600-44390200	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:44387800-44391400	Weak transcription	NH-A	brain
20	chr15:44388000-44393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:44388200-44390000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:44388600-44389200	Enhancers	NHDF-Ad	bronchial
23	chr15:44388600-44398000	Enhancers	Brain Substantia Nigra	brain
24	chr15:44388800-44389600	Enhancers	Brain Hippocampus Middle	brain
25	chr15:44388800-44390000	Enhancers	Brain Angular Gyrus	brain
26	chr15:44388800-44390000	Enhancers	Fetal Heart	heart
27	chr15:44388800-44390200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:44388800-44391800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr15:44389000-44389800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:44389000-44389800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:44389000-44390200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:44389000-44390200	Enhancers	Brain Anterior Caudate	brain
33	chr15:44389200-44391400	Weak transcription	NHDF-Ad	bronchial
34	chr15:44389400-44390200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr15:44389600-44389800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr15:44389600-44390200	Enhancers	Liver	Liver
37	chr15:44389800-44390000	Enhancers	Brain Hippocampus Middle	brain
38	chr15:44389800-44390400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:44389800-44391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:44389800-44392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:44390000-44390200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr15:44390000-44391000	Weak transcription	Fetal Heart	heart
43	chr15:44390000-44391200	Weak transcription	Brain Angular Gyrus	brain
44	chr15:44390000-44391400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:44390200-44390600	Enhancers	Brain Hippocampus Middle	brain
46	chr15:44390200-44391200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:44390200-44391600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:44390200-44392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:44390200-44392600	Weak transcription	Brain Anterior Caudate	brain
50	chr15:44390200-44392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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