Variant report

Variant	esv3369301
Chromosome Location	chr1:220569629-220572627
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	chr1:220571676-220571758	GM13976	blood:	n/a	n/a
2	CTCF	chr1:220570120-220570270	GM06990	blood:	n/a	n/a
3	SPI1	chr1:220571851-220572108	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260505	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535033173	chr1:220569663-220569664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371159922	chr1:220569665-220569666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558219385	chr1:220569693-220569694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571544931	chr1:220569723-220569724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370280469	chr1:220569731-220569732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557076473	chr1:220569736-220569737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529910831	chr1:220569741-220569742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181064236	chr1:220569751-220569752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77467081	chr1:220569789-220569790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75477475	chr1:220569790-220569791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542678853	chr1:220569796-220569797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140051018	chr1:220569855-220569856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572635056	chr1:220569868-220569869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386639569	chr1:220569966-220569967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12043297	chr1:220569967-220569968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185518745	chr1:220569988-220569989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543770102	chr1:220569999-220570000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563861399	chr1:220570085-220570086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188708773	chr1:220570105-220570106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549465757	chr1:220570130-220570131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570248786	chr1:220570146-220570147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181520067	chr1:220570150-220570151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537690008	chr1:220570151-220570152	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs17007606	chr1:220570180-220570181	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs551798005	chr1:220570185-220570186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145579744	chr1:220570191-220570192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79430286	chr1:220570211-220570212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550622785	chr1:220570218-220570219	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534297792	chr1:220570229-220570230	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147739690	chr1:220570236-220570237	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs142662228	chr1:220570255-220570256	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs12132226	chr1:220570279-220570280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35505230	chr1:220570304-220570305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538389864	chr1:220570383-220570384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187054811	chr1:220570542-220570543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142506323	chr1:220570589-220570590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544068308	chr1:220570590-220570591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374670455	chr1:220570627-220570628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563842690	chr1:220570664-220570665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574310629	chr1:220570695-220570696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543222742	chr1:220570746-220570747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191702393	chr1:220570757-220570758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576035602	chr1:220570774-220570775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58704333	chr1:220570775-220570776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528553716	chr1:220570819-220570820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77112091	chr1:220570836-220570837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565254825	chr1:220570870-220570871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530826139	chr1:220570892-220570893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184000210	chr1:220570964-220570965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186428277	chr1:220570965-220570966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220565400-220583000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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