Variant report

Variant	esv3375452
Chromosome Location	chr1:166495343-166534187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:166530687-166530718	K562	blood:	n/a	n/a
2	CBX3	chr1:166525520-166525829	K562	blood:	n/a	n/a
3	CBX3	chr1:166525579-166525895	K562	blood:	n/a	n/a
4	CBX3	chr1:166505601-166505971	K562	blood:	n/a	n/a
5	CBX3	chr1:166500999-166501356	K562	blood:	n/a	n/a
6	CEBPB	chr1:166521991-166522172	HepG2	liver:	n/a	chr1:166522076-166522087
7	CEBPB	chr1:166497724-166497840	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:166497614-166497843	K562	blood:	n/a	n/a
9	CEBPB	chr1:166497618-166497854	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:166531518-166531646	A549	lung:	n/a	n/a
11	CEBPB	chr1:166521965-166522147	K562	blood:	n/a	chr1:166522076-166522087
12	CTCF	chr1:166496860-166496923	K562	blood:	n/a	n/a
13	CTCF	chr1:166520940-166521090	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr1:166496863-166496945	LNCaP	prostate:	n/a	n/a
15	CTCF	chr1:166496547-166496588	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr1:166496740-166496890	HMEC	breast:	n/a	n/a
17	CTCF	chr1:166510087-166510119	GM20000	blood:	n/a	n/a
18	CTCF	chr1:166496800-166496950	HMEC	breast:	n/a	n/a
19	CUX1	chr1:166533129-166533166	K562	blood:	n/a	n/a
20	E2F4	chr1:166525978-166526086	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr1:166507196-166507522	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr1:166528023-166528050	K562	blood:	n/a	n/a
23	EP300	chr1:166497478-166497492	K562	blood:	n/a	n/a
24	FOXA2	chr1:166521152-166521594	A549	lung:	n/a	n/a
25	GATA3	chr1:166505367-166505465	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr1:166510467-166510480	SH-SY5Y	brain:	n/a	n/a
27	KAP1	chr1:166500786-166501587	K562	blood:	n/a	n/a
28	KAP1	chr1:166505252-166506479	K562	blood:	n/a	n/a
29	KAP1	chr1:166507597-166507797	K562	blood:	n/a	n/a
30	KAP1	chr1:166525239-166526151	K562	blood:	n/a	n/a
31	MAFF	chr1:166525306-166525587	K562	blood:	n/a	n/a
32	MAFF	chr1:166507972-166508259	K562	blood:	n/a	n/a
33	MAFF	chr1:166525309-166525572	HepG2	liver:	n/a	n/a
34	MAFF	chr1:166508042-166508242	HepG2	liver:	n/a	n/a
35	MAFK	chr1:166507955-166508265	IMR90	lung:	n/a	n/a
36	MAFK	chr1:166507990-166508250	HepG2	liver:	n/a	n/a
37	MAFK	chr1:166507917-166508266	HepG2	liver:	n/a	n/a
38	MAFK	chr1:166525290-166525610	IMR90	lung:	n/a	n/a
39	MAFK	chr1:166531973-166532119	HepG2	liver:	n/a	n/a
40	MAFK	chr1:166525377-166525557	K562	blood:	n/a	n/a
41	MAFK	chr1:166525284-166525602	HepG2	liver:	n/a	n/a
42	MAFK	chr1:166525338-166525559	HepG2	liver:	n/a	n/a
43	MAFK	chr1:166507968-166508202	K562	blood:	n/a	n/a
44	MYC	chr1:166501369-166501668	A549	lung:	n/a	n/a
45	POLR2A	chr1:166525248-166525332	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:166497364-166497410	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:166523501-166523540	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:166497315-166497679	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:166533229-166533350	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:166527108-166527201	A549	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166525439..166528045-chr1:166531507..166534045,2	K562	blood:
2	chr1:166498822..166501708-chr1:166502743..166504796,2	MCF-7	breast:
3	chr1:166503141..166505252-chr1:166506106..166508917,2	K562	blood:
4	chr1:166503141..166505252-chr1:166506106..166508917,2	K562	blood:
5	chr1:166507154..166509777-chr1:166808647..166811411,2	K562	blood:
6	chr1:166519753..166521489-chr1:166523362..166525642,2	K562	blood:
7	chr1:166519753..166521489-chr1:166523362..166525642,2	K562	blood:
8	chr1:166498822..166501708-chr1:166502743..166504796,2	MCF-7	breast:
9	chr1:166512826..166515728-chr1:166533792..166536212,2	K562	blood:
10	chr1:166525448..166527938-chr1:166528907..166531054,2	K562	blood:
11	chr1:166525439..166528045-chr1:166531507..166534045,2	K562	blood:
12	chr1:166528353..166531255-chr1:166533541..166536612,3	K562	blood:
13	chr1:166525448..166527938-chr1:166528907..166531054,2	K562	blood:
14	chr1:166491898..166494773-chr1:166503780..166506607,2	K562	blood:
15	chr1:166436743..166438384-chr1:166525102..166527885,2	K562	blood:
16	chr1:166526359..166528969-chr1:166551076..166553291,2	K562	blood:

No data

Variant related genes	Relation type
FMO8P	TF binding region
ENSG00000143157	chromatin interactions
ENSG00000238087	chromatin interactions

Extended variants
information (count: 582 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573665581	chr1:166495347-166495348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148208337	chr1:166495385-166495386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149535053	chr1:166495395-166495396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67241036	chr1:166495399-166495400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368080703	chr1:166496403-166496404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113002076	chr1:166496493-166496494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376371217	chr1:166496506-166496507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371845542	chr1:166496544-166496545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190899467	chr1:166496550-166496551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544396366	chr1:166496556-166496557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146403825	chr1:166496582-166496583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183138981	chr1:166496583-166496584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4657568	chr1:166496594-166496595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559850547	chr1:166496596-166496597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555370264	chr1:166496619-166496620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528805795	chr1:166496644-166496645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551754901	chr1:166496671-166496672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565559299	chr1:166496676-166496677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567511834	chr1:166496677-166496678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187429475	chr1:166496686-166496687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144237766	chr1:166496735-166496736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34405988	chr1:166496752-166496753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4656504	chr1:166496788-166496789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567461904	chr1:166496798-166496799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565709615	chr1:166496804-166496805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144238125	chr1:166496850-166496851	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556367495	chr1:166496894-166496895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148734400	chr1:166496954-166496955	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs193077500	chr1:166496994-166496995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539006011	chr1:166496995-166496996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558605190	chr1:166497033-166497034	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577941587	chr1:166497041-166497042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545110416	chr1:166497046-166497047	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557367094	chr1:166497053-166497054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371128737	chr1:166497054-166497055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7556345	chr1:166497055-166497056	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142361896	chr1:166497076-166497077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554761909	chr1:166497083-166497084	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574591801	chr1:166497084-166497085	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571946323	chr1:166497086-166497087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs151189860	chr1:166497106-166497107	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553747634	chr1:166497163-166497164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576800687	chr1:166497195-166497196	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545763277	chr1:166497196-166497197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184876235	chr1:166497200-166497201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74975493	chr1:166497233-166497234	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544411318	chr1:166497244-166497245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78682499	chr1:166497380-166497381	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150013908	chr1:166497430-166497431	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530149614	chr1:166497431-166497432	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166494800-166495400	Enhancers	Liver	Liver
2	chr1:166496400-166496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:166496400-166497000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:166496400-166498200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:166496600-166496800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:166496600-166497000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:166496600-166498400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:166496800-166497000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:166496800-166497200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:166496800-166497600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:166496800-166498000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:166497000-166497200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:166497000-166497400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:166497200-166497600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:166497200-166498400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:166497400-166498400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:166497600-166498200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:166498200-166498400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:166498400-166500200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr1:166498400-166500800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr1:166499800-166500400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr1:166500000-166500200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr1:166505600-166507200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:166513800-166514200	Enhancers	K562	blood

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