Variant report

Variant	esv3421736
Chromosome Location	chr1:189786029-189788977
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	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563712093	chr1:189786041-189786042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555219021	chr1:189786051-189786052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374812169	chr1:189786056-189786057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1517099	chr1:189786148-189786149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1517100	chr1:189786171-189786172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192003396	chr1:189786184-189786185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1517101	chr1:189786213-189786214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4845154	chr1:189786228-189786229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533472616	chr1:189786239-189786240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557607527	chr1:189786301-189786302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10919808	chr1:189786347-189786348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4845198	chr1:189786356-189786357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4845199	chr1:189786362-189786363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71637218	chr1:189786389-189786390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138084665	chr1:189786432-189786433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545385305	chr1:189786433-189786434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115676743	chr1:189786439-189786440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182630522	chr1:189786524-189786525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550632594	chr1:189786557-189786558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9427447	chr1:189786558-189786559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs142276769	chr1:189786561-189786562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549049547	chr1:189786580-189786581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185389200	chr1:189786600-189786601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534568169	chr1:189786630-189786631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9427448	chr1:189786691-189786692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111342047	chr1:189786692-189786693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9427449	chr1:189786693-189786694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146070165	chr1:189786744-189786745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138689944	chr1:189786764-189786765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558258404	chr1:189786787-189786788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9427450	chr1:189786807-189786808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12027808	chr1:189786819-189786820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553242114	chr1:189786875-189786876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9427451	chr1:189786885-189786886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545342192	chr1:189786889-189786890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9427452	chr1:189786896-189786897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141147410	chr1:189786924-189786925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544333772	chr1:189786952-189786953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563570999	chr1:189786970-189786971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190094938	chr1:189786980-189786981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9427453	chr1:189786984-189786985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12027840	chr1:189786998-189786999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182793224	chr1:189787045-189787046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551361703	chr1:189787061-189787062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139898344	chr1:189787111-189787112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571292967	chr1:189787112-189787113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75453580	chr1:189787177-189787178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550739922	chr1:189787186-189787187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137992424	chr1:189787187-189787188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114759103	chr1:189787297-189787298	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
Ewing''s sarcoma	17952124	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189785600-189786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:189785600-189786200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:189785600-189786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:189785800-189786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:189785800-189786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:189786200-189789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:189786200-189789800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:189786200-189789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:189786200-189790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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