Variant report

Variant	esv3453503
Chromosome Location	chr1:228818828-228820117
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	GATA3	chr1:228818604-228819150	MCF-7	breast:	n/a	chr1:228818624-228818631 chr1:228818980-228818997 chr1:228818624-228818631 chr1:228818624-228818631 chr1:228818983-228818990
2	MAFF	chr1:228819299-228819499	HepG2	liver:	n/a	n/a
3	MAFF	chr1:228819283-228819483	K562	blood:	n/a	n/a
4	MAFK	chr1:228819221-228819536	HepG2	liver:	n/a	chr1:228819363-228819378
5	MAFK	chr1:228819311-228819389	HepG2	liver:	n/a	chr1:228819363-228819378
6	MAFK	chr1:228819251-228819481	IMR90	lung:	n/a	chr1:228819363-228819378
7	SIN3AK20	chr1:228818679-228819213	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
FTH1P2	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34813976	chr1:228818919-228818920	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10916354	chr1:228818957-228818958	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527483566	chr1:228818962-228818963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547298621	chr1:228819060-228819061	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567175449	chr1:228819118-228819119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536266970	chr1:228819119-228819120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374959495	chr1:228819147-228819148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs74942298	chr1:228819148-228819149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs16848856	chr1:228819166-228819167	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142523548	chr1:228819169-228819170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs150926357	chr1:228819170-228819171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28593575	chr1:228819227-228819228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373754275	chr1:228819242-228819243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570073898	chr1:228819257-228819258	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139652372	chr1:228819259-228819260	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183663227	chr1:228819264-228819265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575153800	chr1:228819331-228819332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115708117	chr1:228819385-228819386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs556220925	chr1:228819404-228819405	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575943234	chr1:228819492-228819493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs115494082	chr1:228819498-228819499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78665587	chr1:228819514-228819515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552207913	chr1:228819535-228819536	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs527484708	chr1:228819541-228819542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540797596	chr1:228819557-228819558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371357427	chr1:228819571-228819572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149743077	chr1:228819574-228819575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373515589	chr1:228819592-228819593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146740491	chr1:228819629-228819630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570072784	chr1:228819669-228819670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115029184	chr1:228819676-228819677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376268522	chr1:228819752-228819753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140343415	chr1:228819785-228819786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145407288	chr1:228819789-228819790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189053014	chr1:228819807-228819808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370344795	chr1:228819808-228819809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565930632	chr1:228819809-228819810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367980339	chr1:228819824-228819825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555238630	chr1:228819853-228819854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180795757	chr1:228819854-228819855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554370029	chr1:228819927-228819928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537786902	chr1:228819945-228819946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557358385	chr1:228819964-228819965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185686854	chr1:228819969-228819970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575994805	chr1:228819970-228819971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544631427	chr1:228819973-228819974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558641427	chr1:228819975-228819976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572009506	chr1:228819980-228819981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540708947	chr1:228819981-228819982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560797177	chr1:228819984-228819985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
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
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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228817400-228820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:228817800-228819000	Enhancers	Duodenum Mucosa	Duodenum
3	chr1:228820000-228820400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:228820000-228821000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:228820000-228821200	Enhancers	Placenta	Placenta

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