Variant report

Variant	nsv519885
Chromosome Location	chr1:240171208-240174291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:240171820-240171970	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr1:240171840-240171990	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:240171860-240172010	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr1:240171800-240171950	WERI-Rb-1	eye:	n/a	n/a
5	KAP1	chr1:240173784-240174080	HEK293	kidney:	n/a	n/a
6	MAX	chr1:240171987-240171992	NB4	blood:	n/a	n/a
7	SETDB1	chr1:240173731-240173951	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
FMN2	TF binding region
RPS7P5	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2126384	chr1:240171208-240171209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2126383	chr1:240171220-240171221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2126382	chr1:240171222-240171223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1236993	chr1:240171232-240171233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527770066	chr1:240171245-240171246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546292568	chr1:240171264-240171265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72390152	chr1:240171282-240171283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201528146	chr1:240171284-240171285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12065986	chr1:240171341-240171342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112000345	chr1:240171342-240171343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147394675	chr1:240171352-240171353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554536187	chr1:240171370-240171371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115250702	chr1:240171425-240171426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12130440	chr1:240171436-240171437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561834196	chr1:240171443-240171444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528887788	chr1:240171454-240171455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10926055	chr1:240171483-240171484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565304997	chr1:240171494-240171495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139678055	chr1:240171503-240171504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60676423	chr1:240171517-240171518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571032260	chr1:240171548-240171549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538044484	chr1:240171549-240171550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151003604	chr1:240171565-240171566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71644999	chr1:240171585-240171586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71645000	chr1:240171588-240171589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71645001	chr1:240171593-240171594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140900294	chr1:240171634-240171635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372039389	chr1:240171825-240171826	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10926056	chr1:240171849-240171850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540921148	chr1:240171857-240171858	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs77790248	chr1:240171951-240171952	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189563977	chr1:240171983-240171984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs115363607	chr1:240171990-240171991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs564415466	chr1:240172062-240172063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576234703	chr1:240172063-240172064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183346424	chr1:240172064-240172065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57131021	chr1:240172071-240172072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368067004	chr1:240172072-240172073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12130657	chr1:240172116-240172117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370806357	chr1:240172122-240172123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547263538	chr1:240172145-240172146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558924021	chr1:240172148-240172149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115619855	chr1:240172150-240172151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551493003	chr1:240172154-240172155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114010462	chr1:240172156-240172157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188669709	chr1:240172163-240172164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373639766	chr1:240172166-240172167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568634360	chr1:240172175-240172176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530050448	chr1:240172207-240172208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536159982	chr1:240172209-240172210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240169400-240173600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:240171000-240172200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:240171200-240171600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr1:240171200-240172000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:240171400-240172200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:240172200-240172600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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