Variant report

Variant	esv1835581
Chromosome Location	chr2:98235741-98240470
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	chr2:98236811..98238337-chr2:98279045..98280683,2	K562	blood:

Variant related genes	Relation type
ENSG00000228486	chromatin interactions
ENSG00000115073	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77820355	chr2:98235741-98235742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2595317	chr2:98235742-98235743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544094346	chr2:98235754-98235755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563856885	chr2:98235769-98235770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529556752	chr2:98235770-98235771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542582206	chr2:98235816-98235817	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372935339	chr2:98235828-98235829	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1823319	chr2:98235926-98235927	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551500189	chr2:98235951-98235952	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570622333	chr2:98235978-98235979	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528603854	chr2:98235997-98235998	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56726936	chr2:98236060-98236061	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112930148	chr2:98236093-98236094	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111374808	chr2:98236105-98236106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73959750	chr2:98236124-98236125	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111604730	chr2:98236162-98236163	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565689696	chr2:98236298-98236299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534700838	chr2:98236313-98236314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529718794	chr2:98236346-98236347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112656061	chr2:98236379-98236380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578108819	chr2:98236390-98236391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182176812	chr2:98236396-98236397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2442185	chr2:98236403-98236404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2442186	chr2:98236420-98236421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573947556	chr2:98236435-98236436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112493800	chr2:98236559-98236560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368912100	chr2:98236623-98236624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559309944	chr2:98236835-98236836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572948756	chr2:98236854-98236855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545463111	chr2:98236871-98236872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186504851	chr2:98236903-98236904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs57472142	chr2:98236987-98236988	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549683978	chr2:98236992-98236993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111436380	chr2:98237029-98237030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529161544	chr2:98237133-98237134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549340475	chr2:98237162-98237163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565679435	chr2:98237172-98237173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534632757	chr2:98237173-98237174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114661155	chr2:98237215-98237216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191287722	chr2:98237216-98237217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537150636	chr2:98237278-98237279	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557229359	chr2:98237286-98237287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573935014	chr2:98237289-98237290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536543970	chr2:98237293-98237294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553278770	chr2:98237295-98237296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572885478	chr2:98237299-98237300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs545039100	chr2:98237317-98237318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565303580	chr2:98237319-98237320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575604556	chr2:98237323-98237324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185569332	chr2:98237351-98237352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:98234800-98235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:98235400-98236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:98235800-98236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:98235800-98236400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:98236000-98236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:98236000-98236200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:98236000-98236400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:98236000-98236400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:98236000-98236400	Enhancers	Hela-S3	cervix
11	chr2:98236000-98236400	Enhancers	K562	blood
12	chr2:98236200-98236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle

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