Variant report

Variant	nsv525586
Chromosome Location	chr1:176224746-176277052
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	chr1:176235349-176235583	A549	lung:	n/a	chr1:176235500-176235511
3	CEBPB	chr1:176235386-176235672	HepG2	liver:	n/a	chr1:176235500-176235511
4	CEBPB	chr1:176261864-176261977	A549	lung:	n/a	n/a
5	CEBPB	chr1:176268183-176268505	K562	blood:	n/a	chr1:176268359-176268370
6	CEBPB	chr1:176235458-176235551	K562	blood:	n/a	chr1:176235500-176235511
7	CEBPB	chr1:176235348-176235638	IMR90	lung:	n/a	chr1:176235500-176235511
8	CEBPB	chr1:176244549-176244764	HepG2	liver:	n/a	chr1:176244615-176244626
9	CEBPB	chr1:176244558-176244756	K562	blood:	n/a	chr1:176244615-176244626
10	CEBPB	chr1:176268205-176268533	HepG2	liver:	n/a	chr1:176268359-176268370
11	CEBPB	chr1:176268230-176268493	A549	lung:	n/a	chr1:176268359-176268370
12	CEBPB	chr1:176261905-176261970	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr1:176268209-176268515	IMR90	lung:	n/a	chr1:176268359-176268370
14	CTCF	chr1:176236220-176236370	GM12878	blood:	n/a	n/a
15	CTCF	chr1:176232340-176232490	GM12866	blood:	n/a	n/a
16	CTCF	chr1:176269360-176269510	GM12867	blood:	n/a	n/a
17	CTCF	chr1:176231829-176231867	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr1:176230218-176230257	GM20000	blood:	n/a	n/a
19	CTCF	chr1:176247966-176247997	GM20000	blood:	n/a	n/a
20	CTCF	chr1:176246780-176246930	HepG2	liver:	n/a	n/a
21	E2F4	chr1:176255235-176255309	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr1:176248532-176248858	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr1:176259535-176259735	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:176268311-176268376	MCF10A-Er-Src	breast:	n/a	chr1:176268319-176268327
25	FOS	chr1:176268221-176268309	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr1:176252030-176252380	HepG2	liver:	n/a	n/a
27	FOXA1	chr1:176265724-176266055	HepG2	liver:	n/a	n/a
28	FOXA1	chr1:176252077-176252367	HepG2	liver:	n/a	n/a
29	FOXA2	chr1:176265765-176266034	A549	lung:	n/a	n/a
30	FOXA2	chr1:176230589-176230924	A549	lung:	n/a	n/a
31	FOXA2	chr1:176230477-176230979	A549	lung:	n/a	n/a
32	GABPA	chr1:176248908-176248992	HepG2	liver:	n/a	n/a
33	GATA3	chr1:176251983-176252401	MCF-7	breast:	n/a	n/a
34	GATA3	chr1:176271414-176271575	SH-SY5Y	brain:	n/a	n/a
35	IKZF1	chr1:176268165-176268307	GM12878	blood:	n/a	n/a
36	JUN	chr1:176243804-176243950	K562	blood:	n/a	n/a
37	KAP1	chr1:176255194-176255597	U2OS	brain:	n/a	n/a
38	KAP1	chr1:176255108-176255670	HEK293	kidney:	n/a	n/a
39	MAFK	chr1:176240933-176241026	HepG2	liver:	n/a	chr1:176240989-176241004
40	MAFK	chr1:176240966-176241011	HepG2	liver:	n/a	chr1:176240989-176241004
41	MYC	chr1:176256878-176256903	MCF-7	breast:	n/a	n/a
42	MYC	chr1:176248346-176248394	MCF-7	breast:	n/a	n/a
43	MYC	chr1:176256864-176256886	MCF-7	breast:	n/a	n/a
44	MYC	chr1:176232173-176232364	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFYB	chr1:176255276-176255476	GM12878	blood:	n/a	n/a
46	NR2F2	chr1:176251945-176252477	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:176265957-176266063	Gliobla	brain:	n/a	n/a
48	POLR2A	chr1:176267820-176267872	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:176251717-176251917	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:176273494-176273536	MCF10A-Er-Src	breast:	n/a	n/a

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

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

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

Extended variants
information (count: 198 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs563966585	chr1:176231004-176231005	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187383863	chr1:176231016-176231017	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190350051	chr1:176231024-176231025	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574198590	chr1:176231037-176231038	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559826970	chr1:176231046-176231047	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528923769	chr1:176231062-176231063	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371771677	chr1:176231067-176231068	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549191563	chr1:176231069-176231070	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139022446	chr1:176231076-176231077	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531949482	chr1:176231081-176231082	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552045156	chr1:176231087-176231088	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571801585	chr1:176231093-176231094	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534207275	chr1:176231130-176231131	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376911015	chr1:176231175-176231176	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554172882	chr1:176231185-176231186	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567782178	chr1:176231188-176231189	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200192895	chr1:176231211-176231212	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149869509	chr1:176231212-176231213	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368246373	chr1:176231242-176231243	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146430106	chr1:176231253-176231254	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs139840994	chr1:176231296-176231297	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs11801582	chr1:176231315-176231316	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114815171	chr1:176231358-176231359	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559693241	chr1:176231407-176231408	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182589704	chr1:176231428-176231429	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542303818	chr1:176231510-176231511	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186907778	chr1:176231548-176231549	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192648844	chr1:176231564-176231565	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184637040	chr1:176231565-176231566	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74129013	chr1:176231571-176231572	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150911255	chr1:176231622-176231623	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576279587	chr1:176231623-176231624	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527960889	chr1:176231627-176231628	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547839760	chr1:176231629-176231630	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200969110	chr1:176231630-176231631	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12117041	chr1:176231631-176231632	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78074129	chr1:176231632-176231633	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs67587748	chr1:176231633-176231634	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56069952	chr1:176231634-176231635	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376538706	chr1:176231635-176231636	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536785049	chr1:176231645-176231646	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193253675	chr1:176231648-176231649	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369461612	chr1:176231673-176231674	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528238346	chr1:176231681-176231682	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556691684	chr1:176231698-176231699	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570007042	chr1:176231704-176231705	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184754611	chr1:176231736-176231737	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143279150	chr1:176231761-176231762	Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs146722669	chr1:176231864-176231865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540119071	chr1:176231866-176231867	Active TSS	n/a	n/a	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176231000-176231400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:176231000-176231800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr1:176231000-176232000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:176231400-176231800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:176231800-176232000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:176233400-176234000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:176236600-176237200	Active TSS	K562	blood
8	chr1:176256600-176256800	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr1:176258600-176259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:176259000-176259800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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