Variant report

Variant	esv3440978
Chromosome Location	chr1:166498343-166533931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 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	chr1:166505601-166505971	K562	blood:	n/a	n/a
3	CBX3	chr1:166525579-166525895	K562	blood:	n/a	n/a
4	CBX3	chr1:166500999-166501356	K562	blood:	n/a	n/a
5	CBX3	chr1:166525520-166525829	K562	blood:	n/a	n/a
6	CEBPB	chr1:166521991-166522172	HepG2	liver:	n/a	chr1:166522076-166522087
7	CEBPB	chr1:166531518-166531646	A549	lung:	n/a	n/a
8	CEBPB	chr1:166521965-166522147	K562	blood:	n/a	chr1:166522076-166522087
9	CTCF	chr1:166510087-166510119	GM20000	blood:	n/a	n/a
10	CTCF	chr1:166520940-166521090	WERI-Rb-1	eye:	n/a	n/a
11	CUX1	chr1:166533129-166533166	K562	blood:	n/a	n/a
12	E2F4	chr1:166507196-166507522	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr1:166525978-166526086	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr1:166528023-166528050	K562	blood:	n/a	n/a
15	FOXA2	chr1:166521152-166521594	A549	lung:	n/a	n/a
16	GATA3	chr1:166505367-166505465	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr1:166510467-166510480	SH-SY5Y	brain:	n/a	n/a
18	KAP1	chr1:166507597-166507797	K562	blood:	n/a	n/a
19	KAP1	chr1:166525239-166526151	K562	blood:	n/a	n/a
20	KAP1	chr1:166505252-166506479	K562	blood:	n/a	n/a
21	KAP1	chr1:166500786-166501587	K562	blood:	n/a	n/a
22	MAFF	chr1:166508042-166508242	HepG2	liver:	n/a	n/a
23	MAFF	chr1:166525306-166525587	K562	blood:	n/a	n/a
24	MAFF	chr1:166525309-166525572	HepG2	liver:	n/a	n/a
25	MAFF	chr1:166507972-166508259	K562	blood:	n/a	n/a
26	MAFK	chr1:166525290-166525610	IMR90	lung:	n/a	n/a
27	MAFK	chr1:166525338-166525559	HepG2	liver:	n/a	n/a
28	MAFK	chr1:166525284-166525602	HepG2	liver:	n/a	n/a
29	MAFK	chr1:166507955-166508265	IMR90	lung:	n/a	n/a
30	MAFK	chr1:166525377-166525557	K562	blood:	n/a	n/a
31	MAFK	chr1:166507917-166508266	HepG2	liver:	n/a	n/a
32	MAFK	chr1:166507968-166508202	K562	blood:	n/a	n/a
33	MAFK	chr1:166507990-166508250	HepG2	liver:	n/a	n/a
34	MAFK	chr1:166531973-166532119	HepG2	liver:	n/a	n/a
35	MYC	chr1:166501369-166501668	A549	lung:	n/a	n/a
36	POLR2A	chr1:166527108-166527201	A549	lung:	n/a	n/a
37	POLR2A	chr1:166525248-166525332	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:166533229-166533350	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:166523501-166523540	MCF10A-Er-Src	breast:	n/a	n/a
40	RCOR1	chr1:166511815-166511939	K562	blood:	n/a	n/a
41	RFX5	chr1:166499049-166499159	K562	blood:	n/a	n/a
42	RFX5	chr1:166528654-166528719	K562	blood:	n/a	n/a
43	RFX5	chr1:166512905-166513311	K562	blood:	n/a	n/a
44	SETDB1	chr1:166507413-166507788	U2OS	brain:	n/a	n/a
45	SETDB1	chr1:166525394-166525868	U2OS	brain:	n/a	n/a
46	SETDB1	chr1:166499209-166499564	U2OS	brain:	n/a	n/a
47	STAT3	chr1:166513700-166513720	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr1:166531165-166531428	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr1:166514275-166514578	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:166533084-166533284	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 502 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114910844	chr1:166498367-166498368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549325297	chr1:166498395-166498396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575666311	chr1:166498425-166498426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113566512	chr1:166498510-166498511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs10918504	chr1:166498514-166498515	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555470279	chr1:166498543-166498544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188241063	chr1:166498588-166498589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540477931	chr1:166498601-166498602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560686209	chr1:166498630-166498631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192474483	chr1:166498694-166498695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546246775	chr1:166498702-166498703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184506311	chr1:166498708-166498709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188182291	chr1:166498727-166498728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181976544	chr1:166498742-166498743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562004774	chr1:166498743-166498744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572453137	chr1:166498774-166498775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12132581	chr1:166498777-166498778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527542035	chr1:166498786-166498787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184865222	chr1:166498810-166498811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570591575	chr1:166498853-166498854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189183466	chr1:166498902-166498903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199581495	chr1:166498915-166498916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578044498	chr1:166498920-166498921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs60858431	chr1:166498938-166498939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368509640	chr1:166498939-166498940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549491715	chr1:166498963-166498964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569407454	chr1:166498972-166498973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs61113826	chr1:166498996-166498997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554901360	chr1:166499029-166499030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143512904	chr1:166499082-166499083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201493624	chr1:166499090-166499091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534476627	chr1:166499108-166499109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10918505	chr1:166499111-166499112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10800243	chr1:166499133-166499134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181872080	chr1:166499143-166499144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138952347	chr1:166499157-166499158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576602351	chr1:166499299-166499300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186514203	chr1:166499302-166499303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562015367	chr1:166499303-166499304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527612253	chr1:166499304-166499305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547704340	chr1:166499329-166499330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76987739	chr1:166499363-166499364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142187584	chr1:166499383-166499384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111656486	chr1:166499392-166499393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368021649	chr1:166499481-166499482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76912792	chr1:166499482-166499483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75837049	chr1:166499491-166499492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565633876	chr1:166499513-166499514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569871889	chr1:166499530-166499531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115069675	chr1:166499566-166499567	ZNF genes & repeats	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166496600-166498400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:166497200-166498400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:166497400-166498400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:166498200-166498400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:166498400-166500200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr1:166498400-166500800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr1:166499800-166500400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr1:166500000-166500200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr1:166505600-166507200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:166513800-166514200	Enhancers	K562	blood

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