Variant report

Variant	nsv548247
Chromosome Location	chr1:176233932-176277052
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	ATF1	chr1:176248383-176248481	K562	blood:	n/a	n/a
2	CEBPB	chr1:176268183-176268505	K562	blood:	n/a	chr1:176268359-176268370
3	CEBPB	chr1:176235386-176235672	HepG2	liver:	n/a	chr1:176235500-176235511
4	CEBPB	chr1:176268230-176268493	A549	lung:	n/a	chr1:176268359-176268370
5	CEBPB	chr1:176261905-176261970	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:176268209-176268515	IMR90	lung:	n/a	chr1:176268359-176268370
7	CEBPB	chr1:176235348-176235638	IMR90	lung:	n/a	chr1:176235500-176235511
8	CEBPB	chr1:176244558-176244756	K562	blood:	n/a	chr1:176244615-176244626
9	CEBPB	chr1:176268205-176268533	HepG2	liver:	n/a	chr1:176268359-176268370
10	CEBPB	chr1:176261864-176261977	A549	lung:	n/a	n/a
11	CEBPB	chr1:176244549-176244764	HepG2	liver:	n/a	chr1:176244615-176244626
12	CEBPB	chr1:176235458-176235551	K562	blood:	n/a	chr1:176235500-176235511
13	CEBPB	chr1:176235349-176235583	A549	lung:	n/a	chr1:176235500-176235511
14	CTCF	chr1:176236220-176236370	GM12878	blood:	n/a	n/a
15	CTCF	chr1:176269360-176269510	GM12867	blood:	n/a	n/a
16	CTCF	chr1:176247966-176247997	GM20000	blood:	n/a	n/a
17	CTCF	chr1:176246780-176246930	HepG2	liver:	n/a	n/a
18	E2F4	chr1:176248532-176248858	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr1:176259535-176259735	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr1:176255235-176255309	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:176268311-176268376	MCF10A-Er-Src	breast:	n/a	chr1:176268319-176268327
22	FOS	chr1:176268221-176268309	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr1:176265724-176266055	HepG2	liver:	n/a	n/a
24	FOXA1	chr1:176252077-176252367	HepG2	liver:	n/a	n/a
25	FOXA1	chr1:176252030-176252380	HepG2	liver:	n/a	n/a
26	FOXA2	chr1:176265765-176266034	A549	lung:	n/a	n/a
27	GABPA	chr1:176248908-176248992	HepG2	liver:	n/a	n/a
28	GATA3	chr1:176271414-176271575	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr1:176251983-176252401	MCF-7	breast:	n/a	n/a
30	IKZF1	chr1:176268165-176268307	GM12878	blood:	n/a	n/a
31	JUN	chr1:176243804-176243950	K562	blood:	n/a	n/a
32	KAP1	chr1:176255108-176255670	HEK293	kidney:	n/a	n/a
33	KAP1	chr1:176255194-176255597	U2OS	brain:	n/a	n/a
34	MAFK	chr1:176240966-176241011	HepG2	liver:	n/a	chr1:176240989-176241004
35	MAFK	chr1:176240933-176241026	HepG2	liver:	n/a	chr1:176240989-176241004
36	MYC	chr1:176248346-176248394	MCF-7	breast:	n/a	n/a
37	MYC	chr1:176256878-176256903	MCF-7	breast:	n/a	n/a
38	MYC	chr1:176256864-176256886	MCF-7	breast:	n/a	n/a
39	NFYB	chr1:176255276-176255476	GM12878	blood:	n/a	n/a
40	NR2F2	chr1:176251945-176252477	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:176265957-176266063	Gliobla	brain:	n/a	n/a
42	POLR2A	chr1:176252189-176252231	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr1:176256829-176256841	MCF-7	breast:	n/a	n/a
44	POLR2A	chr1:176256857-176256902	A549	lung:	n/a	n/a
45	POLR2A	chr1:176241433-176241450	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:176241605-176241693	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:176256845-176256981	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:176251717-176251917	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:176273494-176273536	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:176236512-176236664	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:176232758..176235577-chr1:176236564..176239265,2	K562	blood:
2	chr1:176272160..176273761-chr1:176275482..176277038,2	K562	blood:
3	chr1:176272160..176273761-chr1:176275482..176277038,2	K562	blood:
4	chr1:176232758..176235577-chr1:176236564..176239265,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFWD2-5	chr1:176274808-176275231	NONHSAT007776

Variant related genes	Relation type
ENSG00000231020	TF binding region
ENSG00000227815	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs352314	chr1:176233932-176233933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182437596	chr1:176233949-176233950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553652279	chr1:176233967-176233968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79320409	chr1:176236620-176236621	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375239936	chr1:176236630-176236631	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575680041	chr1:176236727-176236728	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2792371	chr1:176236739-176236740	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71129567	chr1:176236758-176236759	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544679004	chr1:176236831-176236832	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563380840	chr1:176236865-176236866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141940832	chr1:176236871-176236872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577111559	chr1:176236876-176236877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545977047	chr1:176236885-176236886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12132620	chr1:176236904-176236905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537858036	chr1:176236925-176236926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554312181	chr1:176236926-176236927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567959328	chr1:176236963-176236964	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528366041	chr1:176236972-176236973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548233979	chr1:176236979-176236980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113882323	chr1:176236991-176236992	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs791520	chr1:176236992-176236993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553591580	chr1:176237004-176237005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550647691	chr1:176237019-176237020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570404803	chr1:176237029-176237030	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140052350	chr1:176237054-176237055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs116680668	chr1:176237079-176237080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189978959	chr1:176237081-176237082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145012143	chr1:176238660-176238661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs180770277	chr1:176238691-176238692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149098782	chr1:176238706-176238707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559991414	chr1:176238743-176238744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575415364	chr1:176238785-176238786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560541337	chr1:176238832-176238833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376197753	chr1:176238833-176238834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs531355165	chr1:176238835-176238836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185003995	chr1:176238842-176238843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563717760	chr1:176238852-176238853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532899723	chr1:176238872-176238873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539932273	chr1:176238905-176238906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191409780	chr1:176240171-176240172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558231554	chr1:176240221-176240222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547777807	chr1:176240250-176240251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148105075	chr1:176240327-176240328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs536327325	chr1:176240353-176240354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs183323599	chr1:176240430-176240431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569712018	chr1:176240446-176240447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541465403	chr1:176240934-176240935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs561111990	chr1:176240961-176240962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530255500	chr1:176240980-176240981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370923501	chr1:176240983-176240984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176233400-176234000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:176236600-176237200	Active TSS	K562	blood
3	chr1:176256600-176256800	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr1:176258600-176259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:176259000-176259800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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