Variant report

Variant	nsv947457
Chromosome Location	chr1:188837500-188864451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr1:188857430-188857935	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:188857462-188857804	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:188861142-188861475	Hela-S3	cervix:	n/a	chr1:188861298-188861309
4	CEBPB	chr1:188861151-188861446	A549	lung:	n/a	chr1:188861298-188861309
5	CEBPB	chr1:188854862-188855129	HepG2	liver:	n/a	chr1:188854961-188854974 chr1:188854963-188854974 chr1:188854961-188854972 chr1:188854961-188854974
6	CEBPB	chr1:188845139-188845339	HepG2	liver:	n/a	chr1:188845215-188845226 chr1:188845214-188845227
7	CEBPB	chr1:188861237-188861445	H1-hESC	embryonic stem cell:	n/a	chr1:188861298-188861309
8	CEBPB	chr1:188861137-188861478	HepG2	liver:	n/a	chr1:188861298-188861309
9	CEBPB	chr1:188857286-188858045	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:188861165-188861434	K562	blood:	n/a	chr1:188861298-188861309
11	CEBPB	chr1:188861120-188861477	IMR90	lung:	n/a	chr1:188861298-188861309
12	CHD2	chr1:188857543-188857987	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:188844030-188844110	GM13976	blood:	n/a	n/a
14	CTCF	chr1:188847422-188847457	Kidney_OC	kidney:	n/a	n/a
15	E2F4	chr1:188859185-188859360	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr1:188863616-188863912	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr1:188857339-188858091	Hela-S3	cervix:	n/a	n/a
18	EP300	chr1:188857328-188858092	SK-N-SH	brain:	n/a	n/a
19	EP300	chr1:188857367-188857999	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr1:188857333-188857989	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr1:188862368-188862984	MCF-7	breast:	n/a	n/a
22	EP300	chr1:188862410-188863143	MCF-7	breast:	n/a	n/a
23	FOS	chr1:188841665-188841799	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:188857660-188857877	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:188841592-188841856	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:188857514-188857925	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:188857504-188857992	Hela-S3	cervix:	n/a	n/a
28	FOS	chr1:188857594-188857890	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:188841615-188841822	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:188841651-188841753	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:188857510-188857983	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr1:188857392-188858061	SK-N-SH	brain:	n/a	n/a
33	FOXM1	chr1:188862457-188863041	MCF-7	breast:	n/a	n/a
34	FOXM1	chr1:188862409-188863117	MCF-7	breast:	n/a	n/a
35	GATA3	chr1:188857431-188858067	A549	lung:	n/a	n/a
36	GATA3	chr1:188857517-188858053	MCF-7	breast:	n/a	n/a
37	GATA3	chr1:188855544-188855930	MCF-7	breast:	n/a	chr1:188855795-188855804 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855795-188855805 chr1:188855797-188855804 chr1:188855790-188855811 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855699-188855711 chr1:188855701-188855710 chr1:188855796-188855804 chr1:188855797-188855807 chr1:188855701-188855708
38	GATA3	chr1:188850402-188850423	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr1:188838232-188838314	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr1:188855573-188856008	SH-SY5Y	brain:	n/a	chr1:188855795-188855804 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855795-188855805 chr1:188855797-188855804 chr1:188855790-188855811 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855699-188855711 chr1:188855701-188855710 chr1:188855796-188855804 chr1:188855797-188855807 chr1:188855701-188855708
41	GATA3	chr1:188857232-188858279	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr1:188855411-188856135	MCF-7	breast:	n/a	chr1:188855795-188855804 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855795-188855805 chr1:188855797-188855804 chr1:188855790-188855811 chr1:188855797-188855804 chr1:188855792-188855808 chr1:188855699-188855711 chr1:188855701-188855710 chr1:188855796-188855804 chr1:188855797-188855807 chr1:188855701-188855708
43	GATA3	chr1:188862192-188863262	MCF-7	breast:	n/a	n/a
44	GATA3	chr1:188855555-188855794	MCF-7	breast:	n/a	chr1:188855699-188855711 chr1:188855701-188855710 chr1:188855701-188855708
45	GATA3	chr1:188857179-188858286	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr1:188857329-188857485	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr1:188853549-188853860	MCF-7	breast:	n/a	n/a
48	GATA3	chr1:188862424-188862967	MCF-7	breast:	n/a	n/a
49	GATA3	chr1:188862364-188863046	MCF-7	breast:	n/a	n/a
50	JUN	chr1:188857436-188857931	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:188401580..188402198-chr1:188862429..188863519,3	MCF-7	breast:
2	chr1:188846061..188848491-chr1:188851171..188853585,2	MCF-7	breast:
3	chr1:188846061..188848491-chr1:188851171..188853585,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-2	chr1:188838608-188838879	XLOC_001129
2	lnc-PLA2G4A-17	chr1:188860643-188860786	refGeneNc_416_NR_033922
3	lnc-FAM5C-2	chr1:188856372-188856565	XLOC_001129

Variant related genes	Relation type
ENSG00000238054	TF binding region
KIAA0494	miRNA target sites

Extended variants
information (count: 332 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148549299	chr1:188838664-188838665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572965743	chr1:188838673-188838674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs76784968	chr1:188838686-188838687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs146627395	chr1:188838688-188838689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs528840596	chr1:188838754-188838755	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs550308362	chr1:188838763-188838764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs57193705	chr1:188838771-188838772	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533450852	chr1:188838772-188838773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184211426	chr1:188838788-188838789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs561607617	chr1:188838827-188838828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs530400051	chr1:188838839-188838840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547197176	chr1:188838863-188838864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141232471	chr1:188838877-188838878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535668802	chr1:188846602-188846603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115334320	chr1:188846610-188846611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185228846	chr1:188846635-188846636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369725170	chr1:188846672-188846673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79332025	chr1:188846738-188846739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188544145	chr1:188846778-188846779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79184028	chr1:188846784-188846785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546125419	chr1:188846796-188846797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139263480	chr1:188846835-188846836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149992856	chr1:188846860-188846861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115948327	chr1:188846877-188846878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192484818	chr1:188846910-188846911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113474721	chr1:188846913-188846914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111578768	chr1:188846916-188846917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201363024	chr1:188846919-188846920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78534351	chr1:188846958-188846959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372845921	chr1:188847002-188847003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184724878	chr1:188847006-188847007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187990447	chr1:188847018-188847019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145175962	chr1:188847118-188847119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12239029	chr1:188847165-188847166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76989325	chr1:188847168-188847169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74138179	chr1:188847233-188847234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373203651	chr1:188847242-188847243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114284234	chr1:188847285-188847286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572569453	chr1:188847319-188847320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538721595	chr1:188847363-188847364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551222410	chr1:188847375-188847376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553938014	chr1:188847385-188847386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12065552	chr1:188847428-188847429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533887923	chr1:188847435-188847436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553858417	chr1:188847436-188847437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576962248	chr1:188847441-188847442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545807926	chr1:188847459-188847460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556458207	chr1:188847505-188847506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377360740	chr1:188847506-188847507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs41468148	chr1:188847514-188847515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188846600-188847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:188846600-188847600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:188854400-188855000	Enhancers	Hela-S3	cervix
4	chr1:188855000-188855800	Weak transcription	Hela-S3	cervix
5	chr1:188855800-188856400	Enhancers	Hela-S3	cervix
6	chr1:188856400-188857600	Flanking Active TSS	Hela-S3	cervix
7	chr1:188857200-188858000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:188857600-188859200	Weak transcription	Hela-S3	cervix
9	chr1:188859200-188859600	Enhancers	Hela-S3	cervix

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