Variant report

Variant	nsv547939
Chromosome Location	chr1:153690013-153696665
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	BATF	chr1:153689840-153690071	GM12878	blood:	n/a	chr1:153689961-153689972
2	BATF	chr1:153689854-153690094	GM12878	blood:	n/a	chr1:153689961-153689972
3	CEBPB	chr1:153695769-153696069	K562	blood:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
4	CEBPB	chr1:153695740-153696050	Hela-S3	cervix:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
5	CEBPB	chr1:153695742-153696063	A549	lung:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
6	CEBPB	chr1:153695759-153695948	H1-hESC	embryonic stem cell:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
7	CEBPB	chr1:153695737-153696069	IMR90	lung:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
8	CEBPB	chr1:153692978-153693071	K562	blood:	n/a	n/a
9	CEBPB	chr1:153695741-153696087	HepG2	liver:	n/a	chr1:153695898-153695909 chr1:153695898-153695911
10	CEBPB	chr1:153692919-153693149	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:153691035-153691141	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:153690120-153690270	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:153691062-153691140	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:153696176-153696250	GM10248	blood:	n/a	n/a
15	FOS	chr1:153691790-153691852	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:153691754-153691870	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr1:153693237-153693521	SH-SY5Y	brain:	n/a	n/a
18	POLR2A	chr1:153694052-153694073	HepG2	liver:	n/a	n/a
19	RUNX3	chr1:153689842-153690164	GM12878	blood:	n/a	n/a
20	RUNX3	chr1:153689797-153690247	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153695386..153697637-chr1:153698633..153700483,2	MCF-7	breast:
2	chr1:153693513..153696760-chr1:153696846..153701743,4	MCF-7	breast:
3	chr1:153690798..153692537-chr1:153698848..153701656,2	K562	blood:
4	chr1:153695368..153696887-chr1:153700243..153701750,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ILF2-1	chr1:153690592-153690823	NONHSAT006541
2	lnc-ILF2-1	chr1:153689779-153690298	NONHSAT006541

Variant related genes	Relation type
ENSG00000235015	TF binding region
INTS3	TF binding region
ENSG00000199565	chromatin interactions
ENSG00000143624	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7550138	chr1:153690013-153690014	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567012191	chr1:153690027-153690028	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs150992566	chr1:153690068-153690069	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs368810925	chr1:153690082-153690083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571451639	chr1:153690138-153690139	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs140868811	chr1:153690144-153690145	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561354330	chr1:153690175-153690176	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs576475911	chr1:153690330-153690331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370426129	chr1:153690340-153690341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557190840	chr1:153690359-153690360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192533312	chr1:153690376-153690377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536611537	chr1:153690381-153690382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201733829	chr1:153690393-153690394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567123675	chr1:153690523-153690524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555045886	chr1:153690570-153690571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573374082	chr1:153690699-153690700	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540761237	chr1:153690723-153690724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs558868987	chr1:153690778-153690779	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111261655	chr1:153690808-153690809	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs544502579	chr1:153690884-153690885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530235009	chr1:153690885-153690886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200044881	chr1:153690932-153690933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201197091	chr1:153690935-153690936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150402585	chr1:153690937-153690938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114914592	chr1:153690938-153690939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11283598	chr1:153690939-153690940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71882388	chr1:153690940-153690941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189144016	chr1:153690983-153690984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375313351	chr1:153691020-153691021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530365346	chr1:153691034-153691035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112122564	chr1:153691051-153691052	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191690400	chr1:153691090-153691091	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532803131	chr1:153691093-153691094	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113641394	chr1:153691197-153691198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34231411	chr1:153691198-153691199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528157839	chr1:153691219-153691220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546637164	chr1:153691316-153691317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375173315	chr1:153691348-153691349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571273947	chr1:153691387-153691388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532285155	chr1:153691442-153691443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550510223	chr1:153691460-153691461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569125685	chr1:153691472-153691473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536599331	chr1:153691479-153691480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201804109	chr1:153691545-153691546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573466199	chr1:153691555-153691556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184889105	chr1:153691616-153691617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566909816	chr1:153691632-153691633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189395706	chr1:153691648-153691649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181040040	chr1:153691702-153691703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144887189	chr1:153691736-153691737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153687400-153699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:153690200-153690400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153690400-153699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:153693600-153693800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:153693600-153694200	Enhancers	HepG2	liver
6	chr1:153694200-153698000	Weak transcription	HepG2	liver

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