Variant report

Variant	esv3329978
Chromosome Location	chr5:97697435-97697765
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	chr5:97689861..97692016-chr5:97695118..97697823,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577441843	chr5:97697499-97697500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544324966	chr5:97697502-97697503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374900759	chr5:97697509-97697510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556509083	chr5:97697521-97697522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574599189	chr5:97697523-97697524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559122294	chr5:97697536-97697537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554013570	chr5:97697566-97697567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139803102	chr5:97697579-97697580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184265877	chr5:97697591-97697592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575828202	chr5:97697592-97697593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189675070	chr5:97697594-97697595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540401354	chr5:97697622-97697623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112154326	chr5:97697629-97697630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143534951	chr5:97697712-97697713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550316165	chr5:97697738-97697739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561277313	chr5:97697740-97697741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568825959	chr5:97697745-97697746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529840789	chr5:97697760-97697761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548274482	chr5:97697765-97697766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97696200-97700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:97696200-97700800	Weak transcription	Gastric	stomach
3	chr5:97696600-97697600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97697600-97702000	Weak transcription	Pancreas	Pancrea
5	chr5:97697600-97705200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links