Variant report

Variant	esv3364253
Chromosome Location	chr1:195077579-195079777
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	chr1:195076488..195078314-chr16:29816661..29818822,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103495	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578057722	chr1:195077598-195077599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545065951	chr1:195077605-195077606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184815567	chr1:195077622-195077623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79988323	chr1:195077629-195077630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs80229421	chr1:195077633-195077634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142015696	chr1:195077636-195077637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561264659	chr1:195077643-195077644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531765329	chr1:195077672-195077673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6675199	chr1:195077702-195077703	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188896723	chr1:195077727-195077728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533096652	chr1:195077749-195077750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73071846	chr1:195077754-195077755	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79084321	chr1:195077762-195077763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181692258	chr1:195077763-195077764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79335638	chr1:195077775-195077776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6660251	chr1:195077776-195077777	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189407813	chr1:195077777-195077778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367783712	chr1:195077779-195077780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11801499	chr1:195077798-195077799	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374824849	chr1:195077831-195077832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9700930	chr1:195077878-195077879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs578016211	chr1:195077905-195077906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181449513	chr1:195077909-195077910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553861731	chr1:195077923-195077924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572077673	chr1:195077937-195077938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564978186	chr1:195077949-195077950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185843798	chr1:195077952-195077953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538808082	chr1:195077963-195077964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191142320	chr1:195078026-195078027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532070764	chr1:195078030-195078031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372162237	chr1:195078068-195078069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181884226	chr1:195078087-195078088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143612980	chr1:195078101-195078102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532871838	chr1:195078118-195078119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369574947	chr1:195078123-195078124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35558681	chr1:195078197-195078198	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201404554	chr1:195078200-195078201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566594983	chr1:195078216-195078217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs151108314	chr1:195078231-195078232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527241330	chr1:195078256-195078257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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