Variant report

Variant	esv3363741
Chromosome Location	chr5:111741135-111741416
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	chr5:111738869..111741443-chr5:111742912..111745880,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2431494	chr5:111741157-111741158	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561981340	chr5:111741168-111741169	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79868931	chr5:111741180-111741181	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376320827	chr5:111741191-111741192	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567424589	chr5:111741206-111741207	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369015506	chr5:111741218-111741219	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542156373	chr5:111741231-111741232	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563576232	chr5:111741248-111741249	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190283418	chr5:111741294-111741295	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs118031472	chr5:111741295-111741296	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564656373	chr5:111741309-111741310	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528663376	chr5:111741337-111741338	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148823261	chr5:111741341-111741342	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1524424	chr5:111741343-111741344	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535782581	chr5:111741346-111741347	Weak transcription Flanking Active TSS	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111720400-111742800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:111725800-111742400	Weak transcription	Fetal Kidney	kidney
4	chr5:111726200-111742400	Weak transcription	Lung	lung
5	chr5:111726400-111742400	Weak transcription	Pancreas	Pancrea
6	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:111730800-111742800	Weak transcription	Hela-S3	cervix
9	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:111732400-111742400	Weak transcription	Spleen	Spleen
11	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:111732800-111742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:111735600-111742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:111738000-111742200	Weak transcription	Right Atrium	heart
19	chr5:111738200-111742400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:111738400-111742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
22	chr5:111739400-111741800	Weak transcription	Adipose Nuclei	Adipose
23	chr5:111740200-111741200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111740400-111741200	Genic enhancers	Left Ventricle	heart
25	chr5:111740400-111751400	Weak transcription	Ovary	ovary
26	chr5:111741000-111741800	Flanking Active TSS	Fetal Heart	heart
27	chr5:111741200-111742200	Weak transcription	Left Ventricle	heart
28	chr5:111741200-111742400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links