Variant report

Variant	nsv819976
Chromosome Location	chr5:106969535-106970648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537423342	chr5:106969563-106969564	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543951701	chr5:106969575-106969576	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560986006	chr5:106969578-106969579	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574342354	chr5:106969598-106969599	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539805025	chr5:106969603-106969604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368574202	chr5:106969656-106969657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560021738	chr5:106969693-106969694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532247571	chr5:106969695-106969696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558966427	chr5:106969711-106969712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562526485	chr5:106969791-106969792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78845468	chr5:106969798-106969799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185200915	chr5:106969823-106969824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567690051	chr5:106969831-106969832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536654869	chr5:106969832-106969833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546968677	chr5:106969833-106969834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567192066	chr5:106969840-106969841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372643157	chr5:106969861-106969862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539325209	chr5:106969888-106969889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559135272	chr5:106969942-106969943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577433047	chr5:106969944-106969945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139834154	chr5:106969980-106969981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149804293	chr5:106969981-106969982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554379850	chr5:106970035-106970036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574150039	chr5:106970054-106970055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539866339	chr5:106970139-106970140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559686984	chr5:106970141-106970142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576759649	chr5:106970142-106970143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375673801	chr5:106970173-106970174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145743368	chr5:106970183-106970184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76280653	chr5:106970230-106970231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531393491	chr5:106970268-106970269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548324947	chr5:106970282-106970283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561228572	chr5:106970303-106970304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141633375	chr5:106970348-106970349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9328014	chr5:106970364-106970365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188463321	chr5:106970395-106970396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147666316	chr5:106970402-106970403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116663219	chr5:106970439-106970440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552586560	chr5:106970441-106970442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371078865	chr5:106970470-106970471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13356685	chr5:106970478-106970479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572202940	chr5:106970482-106970483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192580984	chr5:106970524-106970525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542597512	chr5:106970548-106970549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561219223	chr5:106970599-106970600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538062268	chr5:106970628-106970629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184584330	chr5:106970643-106970644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567832090	chr5:106970648-106970649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106942400-106981600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106964600-106972400	Weak transcription	Fetal Heart	heart
3	chr5:106966800-106979600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:106967000-106972200	Weak transcription	Fetal Lung	lung
5	chr5:106967400-106970800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:106967400-106973200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:106967600-106970400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:106968200-106969800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:106968400-106969600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:106968400-106977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:106968600-106969600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:106968600-106969600	Enhancers	HUVEC	blood vessel
13	chr5:106968600-106971200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:106968800-106969600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:106968800-106969600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr5:106968800-106969600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:106968800-106970000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:106968800-106970200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106968800-106970200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:106969000-106969600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:106969000-106969600	Enhancers	Fetal Stomach	stomach
22	chr5:106969000-106969600	Enhancers	Ovary	ovary
23	chr5:106969000-106969600	Enhancers	Right Atrium	heart
24	chr5:106969000-106969600	Enhancers	GM12878-XiMat	blood
25	chr5:106969000-106970200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:106969000-106970200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:106969000-106970200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:106969200-106969600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:106969200-106970200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:106969200-106970600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:106969200-106971200	Enhancers	NHDF-Ad	bronchial
32	chr5:106969200-106972000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr5:106969200-106972600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:106969400-106970200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:106969400-106970800	Weak transcription	A549	lung
36	chr5:106969400-106970800	Enhancers	Osteobl	bone
37	chr5:106969400-106971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:106969400-106971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:106969400-106978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:106969600-106969800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:106969600-106970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:106969600-106970600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:106969600-106970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:106969600-106970800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:106969600-106971000	Weak transcription	GM12878-XiMat	blood
46	chr5:106969600-106971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:106969600-106972400	Weak transcription	Ovary	ovary
48	chr5:106969600-106972400	Weak transcription	Right Atrium	heart
49	chr5:106969600-106972800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:106969600-106988600	Weak transcription	Fetal Stomach	stomach

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