Variant report

Variant	esv3347813
Chromosome Location	chr1:180107179-180109227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180106112..180112838-chr1:180122179..180128333,6	MCF-7	breast:
2	chr1:180105408..180107246-chr1:180123861..180125610,2	K562	blood:
3	chr1:180108189..180109877-chr1:180121485..180124047,2	MCF-7	breast:
4	chr1:180103401..180107232-chr1:180135881..180138747,3	MCF-7	breast:
5	chr1:180103740..180108161-chr1:180108399..180112441,6	K562	blood:
6	chr1:180103740..180108161-chr1:180108399..180112441,6	K562	blood:
7	chr1:180098705..180101372-chr1:180105512..180107387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116260	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569322303	chr1:180107192-180107193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116349208	chr1:180107240-180107241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558911602	chr1:180107308-180107309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189972540	chr1:180107365-180107366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536483810	chr1:180107423-180107424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554836122	chr1:180107432-180107433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58653251	chr1:180107456-180107457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534180452	chr1:180107470-180107471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6691060	chr1:180107472-180107473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376803657	chr1:180107515-180107516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543816323	chr1:180107543-180107544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574093692	chr1:180107557-180107558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542511257	chr1:180107589-180107590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562823991	chr1:180107599-180107600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576122384	chr1:180107637-180107638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545225725	chr1:180107660-180107661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149808695	chr1:180107691-180107692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527433567	chr1:180107702-180107703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145700408	chr1:180107766-180107767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560498565	chr1:180107791-180107792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529660978	chr1:180107797-180107798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549374134	chr1:180107856-180107857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6691435	chr1:180107859-180107860	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9425489	chr1:180107952-180107953	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551996162	chr1:180107958-180107959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571759240	chr1:180107984-180107985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113098239	chr1:180107993-180107994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541604819	chr1:180107998-180107999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534247212	chr1:180108003-180108004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551953557	chr1:180108023-180108024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554311774	chr1:180108032-180108033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9425866	chr1:180108038-180108039	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560321064	chr1:180108041-180108042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561520504	chr1:180108061-180108062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536665437	chr1:180108073-180108074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556172210	chr1:180108075-180108076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575401820	chr1:180108078-180108079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576316488	chr1:180108083-180108084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10610253	chr1:180108093-180108094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112623271	chr1:180108094-180108095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12088634	chr1:180108101-180108102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs59022085	chr1:180108107-180108108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544875549	chr1:180108116-180108117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527473124	chr1:180108133-180108134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558373650	chr1:180108145-180108146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564197175	chr1:180108172-180108173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114760739	chr1:180108182-180108183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188160386	chr1:180108203-180108204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200561504	chr1:180108212-180108213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201263920	chr1:180108214-180108215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180105800-180110800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:180106000-180107200	Enhancers	HUVEC	blood vessel
3	chr1:180107000-180107400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:180107000-180107600	Enhancers	Primary monocytes fromperipheralblood	blood

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