Variant report

Variant	nsv980697
Chromosome Location	chr5:92498149-92499469
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	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190766649	chr5:92498215-92498216	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565041808	chr5:92498230-92498231	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145946408	chr5:92498272-92498273	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182952026	chr5:92498322-92498323	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545021854	chr5:92498375-92498376	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564806982	chr5:92498479-92498480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4613686	chr5:92498497-92498498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139802235	chr5:92498554-92498555	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188154236	chr5:92498566-92498567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544337448	chr5:92498575-92498576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12054781	chr5:92498577-92498578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529511801	chr5:92498584-92498585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142132887	chr5:92498592-92498593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74989068	chr5:92498604-92498605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571477952	chr5:92498647-92498648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34386688	chr5:92498689-92498690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534223103	chr5:92498717-92498718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192890568	chr5:92498728-92498729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139173224	chr5:92498828-92498829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149931032	chr5:92498829-92498830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528463153	chr5:92498837-92498838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551783004	chr5:92498842-92498843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556022952	chr5:92498846-92498847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367729972	chr5:92498905-92498906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571331400	chr5:92498955-92498956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538329208	chr5:92499014-92499015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577905063	chr5:92499034-92499035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199908604	chr5:92499035-92499036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182599459	chr5:92499045-92499046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370116894	chr5:92499065-92499066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541379343	chr5:92499066-92499067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561164602	chr5:92499084-92499085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs72784417	chr5:92499085-92499086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542991662	chr5:92499115-92499116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79534159	chr5:92499155-92499156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531852970	chr5:92499218-92499219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551413907	chr5:92499255-92499256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147603482	chr5:92499307-92499308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367963415	chr5:92499389-92499390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372559830	chr5:92499414-92499415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113032110	chr5:92499437-92499438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74592651	chr5:92499460-92499461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6557066	chr5:92499467-92499468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
2	chr5:92494000-92498200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:92494800-92498200	Weak transcription	Right Atrium	heart
4	chr5:92496000-92498200	Enhancers	HSMM	muscle
5	chr5:92496200-92498600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:92496400-92498600	Enhancers	Fetal Stomach	stomach
7	chr5:92496400-92500800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:92496400-92500800	Enhancers	HMEC	breast
9	chr5:92496600-92498200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:92496600-92499400	Enhancers	Fetal Lung	lung
11	chr5:92496600-92500600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:92496600-92500800	Enhancers	NHLF	lung
13	chr5:92496800-92498200	Enhancers	NHDF-Ad	bronchial
14	chr5:92497000-92498200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:92497000-92498200	Enhancers	A549	lung
16	chr5:92497000-92498400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:92497000-92498400	Enhancers	Fetal Muscle Leg	muscle
18	chr5:92497000-92499400	Enhancers	Adipose Nuclei	Adipose
19	chr5:92497200-92498400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:92497200-92499000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:92497200-92499200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:92497200-92499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:92497400-92498200	Enhancers	NHEK	skin
24	chr5:92497400-92499400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:92497600-92498400	Enhancers	Brain Germinal Matrix	brain
26	chr5:92497600-92498800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:92497600-92499400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:92497600-92499400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:92497600-92499400	Enhancers	Fetal Kidney	kidney
30	chr5:92497600-92499600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:92497800-92498200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:92497800-92498200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:92497800-92498400	Enhancers	Brain Angular Gyrus	brain
34	chr5:92497800-92498400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:92497800-92498400	Enhancers	Fetal Brain Male	brain
36	chr5:92497800-92498600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr5:92497800-92498800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:92497800-92499000	Flanking Active TSS	NH-A	brain
39	chr5:92497800-92499200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:92497800-92499400	Enhancers	Hela-S3	cervix
41	chr5:92498000-92498400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:92498000-92498400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:92498000-92498400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:92498000-92498400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:92498000-92498400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:92498000-92498400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:92498000-92498400	Enhancers	Brain Anterior Caudate	brain
48	chr5:92498000-92498400	Enhancers	Brain Hippocampus Middle	brain
49	chr5:92498000-92498400	Enhancers	Ovary	ovary
50	chr5:92498000-92498400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links