Variant report

Variant	esv3522769
Chromosome Location	chr5:177951940-177952832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553247173	chr5:177952020-177952021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75202239	chr5:177952021-177952022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180746870	chr5:177952060-177952061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4355536	chr5:177952071-177952072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575083469	chr5:177952077-177952078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111601424	chr5:177952111-177952112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111070775	chr5:177952128-177952129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79505655	chr5:177952131-177952132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4045503	chr5:177952191-177952192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1694803	chr5:177952251-177952252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112866504	chr5:177952252-177952253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4994900	chr5:177952311-177952312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66589613	chr5:177952431-177952432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371812238	chr5:177952491-177952492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375261436	chr5:177952551-177952552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56371057	chr5:177952591-177952592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1709750	chr5:177952611-177952612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs595320	chr5:177952671-177952672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528464045	chr5:177952711-177952712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543904284	chr5:177952720-177952721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200937542	chr5:177952729-177952730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67397648	chr5:177952731-177952732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186228211	chr5:177952738-177952739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115725898	chr5:177952757-177952758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559764438	chr5:177952813-177952814	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177947200-177953200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:177947800-177952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:177948000-177952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:177950400-177953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:177951800-177952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177951800-177953000	Weak transcription	Right Atrium	heart
7	chr5:177952800-177953200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr5:177952800-177953200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:177952800-177954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:177952800-177954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177952800-177956400	Enhancers	Left Ventricle	heart

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