Variant report

Variant	esv3327535
Chromosome Location	chr1:190426729-190430527
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	chr1:190429891..190431427-chr1:190443822..190445349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162670	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372329671	chr1:190426738-190426739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542845093	chr1:190426743-190426744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74965271	chr1:190426759-190426760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559834377	chr1:190426761-190426762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191042730	chr1:190426782-190426783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375466320	chr1:190426784-190426785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369748717	chr1:190426819-190426820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551824001	chr1:190426830-190426831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183708635	chr1:190426836-190426837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530774708	chr1:190426885-190426886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541600792	chr1:190426947-190426948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140962505	chr1:190426965-190426966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186543651	chr1:190426972-190426973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563077297	chr1:190426976-190426977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529086280	chr1:190426996-190426997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201824026	chr1:190427048-190427049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574956931	chr1:190427074-190427075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545502047	chr1:190427086-190427087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534432364	chr1:190427093-190427094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115439739	chr1:190427136-190427137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191817532	chr1:190427185-190427186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183535915	chr1:190427240-190427241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557728472	chr1:190427283-190427284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574374751	chr1:190427341-190427342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187821859	chr1:190427342-190427343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553313707	chr1:190427345-190427346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573352517	chr1:190427346-190427347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545182322	chr1:190427356-190427357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528788354	chr1:190427407-190427408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564993069	chr1:190427412-190427413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540970328	chr1:190427452-190427453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77373916	chr1:190427459-190427460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191528250	chr1:190427463-190427464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563271668	chr1:190427476-190427477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546231128	chr1:190427540-190427541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549223269	chr1:190427548-190427549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1697592	chr1:190427553-190427554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369413479	chr1:190427621-190427622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144833683	chr1:190427689-190427690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182174688	chr1:190427692-190427693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147918253	chr1:190427718-190427719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188336808	chr1:190427733-190427734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537079809	chr1:190427740-190427741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192567067	chr1:190427755-190427756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564428125	chr1:190427786-190427787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372234223	chr1:190427795-190427796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567245223	chr1:190427876-190427877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536560226	chr1:190427877-190427878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185306666	chr1:190427902-190427903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573361421	chr1:190427922-190427923	Weak transcription	n/a	n/a	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
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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190422000-190438400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190422800-190438800	Weak transcription	Fetal Intestine Small	intestine

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