Variant report

Variant	esv3491133
Chromosome Location	chr5:178656209-178656526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568232091	chr5:178656231-178656232	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527475979	chr5:178656261-178656262	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545700796	chr5:178656262-178656263	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182007763	chr5:178656270-178656271	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534007327	chr5:178656286-178656287	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186344951	chr5:178656302-178656303	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71611482	chr5:178656315-178656316	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561508727	chr5:178656316-178656317	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs781505	chr5:178656335-178656336	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548762740	chr5:178656344-178656345	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs781504	chr5:178656352-178656353	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529009638	chr5:178656359-178656360	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536805218	chr5:178656371-178656372	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112917110	chr5:178656389-178656390	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs70997670	chr5:178656391-178656392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112433534	chr5:178656409-178656410	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs113498746	chr5:178656426-178656427	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs2431254	chr5:178656463-178656464	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs567092469	chr5:178656464-178656465	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs1703161	chr5:178656483-178656484	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116224941	chr5:178656500-178656501	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181623694	chr5:178656504-178656505	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs571127807	chr5:178656505-178656506	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
2	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
3	chr5:178651000-178659200	Weak transcription	Fetal Brain Male	brain
4	chr5:178651200-178656800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:178651800-178656800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:178652000-178670000	Weak transcription	NHLF	lung
7	chr5:178652200-178658200	Weak transcription	HSMM	muscle
8	chr5:178652400-178670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:178652800-178656800	Enhancers	Fetal Muscle Leg	muscle
10	chr5:178653800-178657000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:178654000-178656600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:178654200-178656600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:178654200-178657600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:178654400-178656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178654800-178657000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:178655000-178664400	Weak transcription	Fetal Lung	lung
17	chr5:178655200-178657000	Weak transcription	Ovary	ovary
18	chr5:178655200-178657200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:178655200-178666800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:178655400-178656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:178655600-178657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:178655600-178660400	Strong transcription	Osteobl	bone
23	chr5:178655600-178661000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:178655800-178663400	Weak transcription	Spleen	Spleen
25	chr5:178656000-178657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:178656000-178658400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:178656000-178671000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:178656200-178656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:178656200-178657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:178656200-178661000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:178656200-178661000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:178656200-178661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:178656400-178657200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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