Variant report

Variant	nsv979134
Chromosome Location	chr2:152239247-152244494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152235649..152239012-chr2:152242898..152246277,3	K562	blood:
2	chr2:152242445..152244031-chr2:152266437..152268688,2	MCF-7	breast:
3	chr2:152236779..152238800-chr2:152244398..152247367,2	K562	blood:
4	chr2:152242491..152244992-chr2:152247349..152248997,2	K562	blood:
5	chr2:152117699..152119349-chr2:152238592..152240978,2	MCF-7	breast:
6	chr2:152238606..152240444-chr2:152245025..152247715,2	MCF-7	breast:
7	chr2:152235316..152237555-chr2:152239202..152241513,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	chromatin interactions
ENSG00000184898	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188770064	chr2:152239307-152239308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367718397	chr2:152239434-152239435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535527743	chr2:152239445-152239446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78860009	chr2:152239448-152239449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555419567	chr2:152239472-152239473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371508505	chr2:152239479-152239480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550825577	chr2:152239495-152239496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533988518	chr2:152239577-152239578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13414396	chr2:152239585-152239586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181483571	chr2:152239673-152239674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187011767	chr2:152239692-152239693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73004051	chr2:152239723-152239724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568741383	chr2:152239742-152239743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576088846	chr2:152239759-152239760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541884650	chr2:152239777-152239778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10171672	chr2:152239803-152239804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532945587	chr2:152239812-152239813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561754081	chr2:152239867-152239868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs80136851	chr2:152239890-152239891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373681767	chr2:152239894-152239895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536718363	chr2:152239895-152239896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397871297	chr2:152239905-152239906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs398090758	chr2:152239906-152239907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547921212	chr2:152239950-152239951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146000387	chr2:152240014-152240015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533641145	chr2:152240062-152240063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550082282	chr2:152240082-152240083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553420130	chr2:152240083-152240084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138566715	chr2:152240107-152240108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs5835364	chr2:152240112-152240113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34482018	chr2:152240113-152240114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201153840	chr2:152240115-152240116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202106046	chr2:152240116-152240117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373073464	chr2:152240119-152240120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73004053	chr2:152240127-152240128	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570609047	chr2:152240136-152240137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549013647	chr2:152240142-152240143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117459542	chr2:152240148-152240149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141211848	chr2:152240184-152240185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75001690	chr2:152240221-152240222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550046909	chr2:152240233-152240234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564950498	chr2:152240246-152240247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368259459	chr2:152240265-152240266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576448743	chr2:152240276-152240277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541840027	chr2:152240301-152240302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553101120	chr2:152240308-152240309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150753973	chr2:152240355-152240356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572064441	chr2:152240365-152240366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373161727	chr2:152240456-152240457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568406164	chr2:152240491-152240492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152216800-152239400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:152218800-152240600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:152227400-152239600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:152238200-152245200	Weak transcription	K562	blood
5	chr2:152238400-152240000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:152239000-152239600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:152239200-152239400	Enhancers	HSMMtube	muscle
8	chr2:152239200-152264800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:152239400-152239600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:152240600-152241200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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