Variant report

Variant	nsv582510
Chromosome Location	chr2:98236403-98240470
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
ENSG00000115073	chromatin interactions
ENSG00000228486	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs2442185	chr2:98236403-98236404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2442186	chr2:98236420-98236421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573947556	chr2:98236435-98236436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112493800	chr2:98236559-98236560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368912100	chr2:98236623-98236624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559309944	chr2:98236835-98236836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572948756	chr2:98236854-98236855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545463111	chr2:98236871-98236872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186504851	chr2:98236903-98236904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs57472142	chr2:98236987-98236988	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549683978	chr2:98236992-98236993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111436380	chr2:98237029-98237030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529161544	chr2:98237133-98237134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549340475	chr2:98237162-98237163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565679435	chr2:98237172-98237173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534632757	chr2:98237173-98237174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114661155	chr2:98237215-98237216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191287722	chr2:98237216-98237217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537150636	chr2:98237278-98237279	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557229359	chr2:98237286-98237287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573935014	chr2:98237289-98237290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536543970	chr2:98237293-98237294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553278770	chr2:98237295-98237296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572885478	chr2:98237299-98237300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545039100	chr2:98237317-98237318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565303580	chr2:98237319-98237320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575604556	chr2:98237323-98237324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185569332	chr2:98237351-98237352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145872501	chr2:98237404-98237405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7591174	chr2:98237430-98237431	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549278946	chr2:98237431-98237432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373531297	chr2:98237496-98237497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528405136	chr2:98237504-98237505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551040766	chr2:98237533-98237534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3970407	chr2:98237607-98237608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs190446479	chr2:98237666-98237667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536736502	chr2:98237676-98237677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193077514	chr2:98237687-98237688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs116577910	chr2:98237689-98237690	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56125452	chr2:98237737-98237738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs57737892	chr2:98237744-98237745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373964034	chr2:98237920-98237921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199994849	chr2:98237949-98237950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200939859	chr2:98237955-98237956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558640136	chr2:98237989-98237990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2259802	chr2:98238035-98238036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544379843	chr2:98238062-98238063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555130527	chr2:98238087-98238088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2259799	chr2:98238098-98238099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573867787	chr2:98238126-98238127	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle

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