Variant report

Variant	esv3389460
Chromosome Location	chr1:210608463-210609017
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	chr1:210545823..210547818-chr1:210606420..210608728,2	K562	blood:
2	chr1:210603462..210605610-chr1:210606812..210609556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529690861	chr1:210608541-210608542	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550132196	chr1:210608544-210608545	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76799593	chr1:210608617-210608618	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371914017	chr1:210608678-210608679	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147546850	chr1:210608686-210608687	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143443915	chr1:210608708-210608709	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7534912	chr1:210608736-210608737	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7534914	chr1:210608746-210608747	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117787038	chr1:210608757-210608758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6669973	chr1:210608786-210608787	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527242022	chr1:210608805-210608806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551901239	chr1:210608833-210608834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6657409	chr1:210608850-210608851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7527066	chr1:210608863-210608864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200378050	chr1:210608912-210608913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6681264	chr1:210608917-210608918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535700033	chr1:210608935-210608936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75299208	chr1:210608950-210608951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572459119	chr1:210608961-210608962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6657514	chr1:210608967-210608968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557891482	chr1:210608974-210608975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374176237	chr1:210608977-210608978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11588425	chr1:210608991-210608992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544167260	chr1:210608998-210608999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11119498	chr1:210609017-210609018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
2	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:210586400-210610800	Weak transcription	Aorta	Aorta
4	chr1:210592000-210609400	Weak transcription	Ovary	ovary
5	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:210602400-210613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:210604200-210610000	Weak transcription	HSMM	muscle
8	chr1:210608000-210612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:210608000-210612200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:210608200-210609800	Weak transcription	HSMMtube	muscle
11	chr1:210608200-210612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:210608200-210612200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:210608200-210612800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:210608400-210608800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
15	chr1:210608800-210610200	Weak transcription	Muscle Satellite Cultured Cells	--

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