Variant report

Variant	nsv820161
Chromosome Location	chr5:106737870-106739081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113286452	chr5:106738027-106738028	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs3756544	chr5:106738045-106738046	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551731502	chr5:106738068-106738069	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572341106	chr5:106738167-106738168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562474627	chr5:106738239-106738240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376164987	chr5:106738244-106738245	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531465125	chr5:106738246-106738247	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17159897	chr5:106738277-106738278	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369148582	chr5:106738286-106738287	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs17159898	chr5:106738305-106738306	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372071622	chr5:106738331-106738332	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191954633	chr5:106738353-106738354	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs199858247	chr5:106738355-106738356	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566951101	chr5:106738374-106738375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138467071	chr5:106738395-106738396	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369949749	chr5:106738404-106738405	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558978028	chr5:106738406-106738407	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149282165	chr5:106738408-106738409	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538511269	chr5:106738409-106738410	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112290756	chr5:106738448-106738449	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574898220	chr5:106738469-106738470	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540814636	chr5:106738485-106738486	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560038987	chr5:106738497-106738498	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375055511	chr5:106738505-106738506	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543124046	chr5:106738511-106738512	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545409455	chr5:106738512-106738513	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368741624	chr5:106738572-106738573	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189090062	chr5:106738597-106738598	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563085572	chr5:106738609-106738610	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192097724	chr5:106738629-106738630	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184030857	chr5:106738639-106738640	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146956891	chr5:106738653-106738654	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186748107	chr5:106738669-106738670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566888870	chr5:106738724-106738725	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539101545	chr5:106738732-106738733	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191222990	chr5:106738743-106738744	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78937162	chr5:106738744-106738745	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs80081624	chr5:106738751-106738752	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184052338	chr5:106738777-106738778	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377181572	chr5:106738790-106738791	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs575076392	chr5:106738832-106738833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530581384	chr5:106738911-106738912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186902105	chr5:106738937-106738938	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552769834	chr5:106738945-106738946	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567614690	chr5:106738951-106738952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs3797517	chr5:106738959-106738960	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193158121	chr5:106739020-106739021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106725800-106740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:106728400-106738200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106731600-106738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:106732200-106738200	Weak transcription	HSMM	muscle
6	chr5:106732200-106739400	Weak transcription	GM12878-XiMat	blood
7	chr5:106732200-106753200	Weak transcription	Fetal Kidney	kidney
8	chr5:106733000-106738200	Weak transcription	Ovary	ovary
9	chr5:106733000-106738400	Weak transcription	Left Ventricle	heart
10	chr5:106733600-106744800	Weak transcription	Right Ventricle	heart
11	chr5:106734400-106738200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:106735200-106741200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:106735200-106741400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:106736000-106740000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:106736000-106740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:106736200-106742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:106736400-106738000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:106736400-106740200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106736400-106741200	Enhancers	A549	lung
20	chr5:106736600-106738000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:106736600-106740600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:106736800-106738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:106736800-106740000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:106736800-106740200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:106737200-106739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:106737200-106740000	Enhancers	Brain Germinal Matrix	brain
27	chr5:106737400-106738400	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:106737400-106738600	Enhancers	Fetal Brain Female	brain
29	chr5:106737400-106738800	Enhancers	Fetal Muscle Leg	muscle
30	chr5:106737400-106739200	Enhancers	Fetal Brain Male	brain
31	chr5:106737400-106739600	Enhancers	Brain Anterior Caudate	brain
32	chr5:106737400-106740400	Enhancers	HMEC	breast
33	chr5:106737400-106741400	Enhancers	Fetal Heart	heart
34	chr5:106737600-106738000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:106737600-106738600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:106737600-106738800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:106737600-106738800	Enhancers	Fetal Stomach	stomach
38	chr5:106737600-106739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:106737600-106740800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:106737800-106738400	Weak transcription	Fetal Lung	lung
41	chr5:106737800-106738600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:106737800-106739000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:106737800-106739000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:106737800-106739600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:106738000-106738400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr5:106738000-106738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:106738000-106738800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:106738000-106740200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:106738200-106738400	Enhancers	HSMMtube	muscle
50	chr5:106738200-106738800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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