Variant report

Variant	nsv872522
Chromosome Location	chr1:166571770-166593683
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	BACH1	chr1:166585472-166585825	K562	blood:	n/a	n/a
2	BACH1	chr1:166585471-166585771	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:166583164-166583219	K562	blood:	n/a	n/a
4	CEBPB	chr1:166572416-166572866	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
5	CEBPB	chr1:166584502-166584549	K562	blood:	n/a	n/a
6	CEBPB	chr1:166572326-166572939	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
7	CEBPB	chr1:166587229-166587284	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:166589724-166589993	K562	blood:	n/a	n/a
9	CTCF	chr1:166587278-166587336	H1-hESC	embryonic stem cell:	n/a	n/a
10	CUX1	chr1:166582185-166582312	K562	blood:	n/a	n/a
11	CUX1	chr1:166574478-166574564	K562	blood:	n/a	n/a
12	E2F4	chr1:166572547-166572893	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F6	chr1:166579805-166579979	K562	blood:	n/a	n/a
14	EGR1	chr1:166572326-166572860	MCF-7	breast:	n/a	n/a
15	EGR1	chr1:166572440-166572910	MCF-7	breast:	n/a	n/a
16	ELF1	chr1:166572385-166572898	MCF-7	breast:	n/a	n/a
17	EP300	chr1:166572432-166572956	MCF-7	breast:	n/a	n/a
18	EP300	chr1:166582244-166582413	K562	blood:	n/a	n/a
19	FOS	chr1:166572442-166572950	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:166572542-166572950	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:166572573-166572930	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:166572414-166572955	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr1:166572419-166572885	MCF-7	breast:	n/a	n/a
24	FOSL2	chr1:166572389-166572887	MCF-7	breast:	n/a	n/a
25	GATA2	chr1:166582257-166582473	SH-SY5Y	brain:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300
26	GATA3	chr1:166581940-166582480	MCF-7	breast:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582043-166582050
27	GATA3	chr1:166572218-166573079	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
28	GATA3	chr1:166582032-166582571	MCF-7	breast:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582043-166582050
29	GATA3	chr1:166572340-166572891	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
30	GATA3	chr1:166572220-166573146	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
31	GATA3	chr1:166589601-166589722	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr1:166572380-166572748	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
33	HDAC2	chr1:166572488-166572888	MCF-7	breast:	n/a	n/a
34	HDAC2	chr1:166572357-166572896	MCF-7	breast:	n/a	chr1:166572395-166572404
35	IRF1	chr1:166574187-166574216	K562	blood:	n/a	n/a
36	IRF1	chr1:166585484-166585860	K562	blood:	n/a	n/a
37	JUND	chr1:166572494-166572897	MCF-7	breast:	n/a	n/a
38	JUND	chr1:166582240-166582285	K562	blood:	n/a	n/a
39	JUND	chr1:166572383-166572896	MCF-7	breast:	n/a	n/a
40	KAP1	chr1:166584843-166585395	K562	blood:	n/a	n/a
41	KAP1	chr1:166574100-166574366	K562	blood:	n/a	n/a
42	MAFF	chr1:166585443-166585835	HepG2	liver:	n/a	chr1:166585634-166585652
43	MAFF	chr1:166585445-166585834	K562	blood:	n/a	chr1:166585634-166585652
44	MAFF	chr1:166574457-166574662	K562	blood:	n/a	n/a
45	MAFK	chr1:166585462-166585931	H1-hESC	embryonic stem cell:	n/a	chr1:166585636-166585651
46	MAFK	chr1:166585232-166586002	GM12878	blood:	n/a	chr1:166585636-166585651
47	MAFK	chr1:166574376-166574710	K562	blood:	n/a	chr1:166574504-166574515 chr1:166574570-166574579
48	MAFK	chr1:166585457-166585863	HepG2	liver:	n/a	chr1:166585636-166585651
49	MAFK	chr1:166585452-166585856	HepG2	liver:	n/a	chr1:166585636-166585651
50	MAFK	chr1:166591086-166591115	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166572716-166572766	GM06990	blood:	n/a
2	chr1:166590947-166590997	HRE	kidney:	n/a
3	chr1:166590947-166590997	SKMC	muscle:	n/a
4	chr1:166590947-166590997	IMR90	lung:	fetal
5	chr1:166572716-166572766	GM19239	blood:	n/a
6	chr1:166572716-166572766	GM12891	blood:	n/a
7	chr1:166590947-166590997	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:166572716-166572766	MCF10A-Er-Src	breast:	n/a
9	chr1:166590947-166590997	LNCaP	prostate:	n/a
10	chr1:166572716-166572766	SK-N-MC	brain:	n/a
11	chr1:166572716-166572766	SK-N-SH_RA	brain:	n/a
12	chr1:166590947-166590997	HRCEpiC	kidney:	n/a
13	chr1:166590947-166590997	GM06990	blood:	n/a
14	chr1:166590947-166590997	SAEC	small airway:	n/a
15	chr1:166590947-166590997	HMEC	breast:	n/a
16	chr1:166590947-166590997	HCPEpiC	choroid plexus:	n/a
17	chr1:166572716-166572766	IMR90	lung:	fetal
18	chr1:166572716-166572766	HEK293	kidney:	embryo
19	chr1:166590947-166590997	ovcar-3	ovarian:	n/a
20	chr1:166572716-166572766	Jurkat	blood:	n/a
21	chr1:166590947-166590997	AG09319	gingival:	n/a
22	chr1:166590947-166590997	Hela-S3	cervix:	n/a
23	chr1:166572716-166572766	BE2_C	brain:	n/a
24	chr1:166590947-166590997	ProgFib	skin:	n/a
25	chr1:166590947-166590997	Caco-2	colon:	n/a
26	chr1:166572716-166572766	Hepatocyte	liver:	n/a
27	chr1:166572716-166572766	ovcar-3	ovarian:	n/a
28	chr1:166572716-166572766	HEEpiC	esophagus:	n/a
29	chr1:166572716-166572766	CMK	blood:	n/a
30	chr1:166590947-166590997	HEEpiC	esophagus:	n/a
31	chr1:166590947-166590997	ECC-1	luminal epithelium:	n/a
32	chr1:166572716-166572766	RPTEC	kidney:	n/a
33	chr1:166590947-166590997	MCF10A-Er-Src	breast:	n/a
34	chr1:166572716-166572766	HCF	heart:	n/a
35	chr1:166590947-166590997	GM12878	blood:	n/a
36	chr1:166590947-166590997	Hepatocyte	liver:	n/a
37	chr1:166572716-166572766	NHDF-neo	bronchial:	n/a
38	chr1:166572716-166572766	HRCEpiC	kidney:	n/a
39	chr1:166572716-166572766	HCM	heart:	n/a
40	chr1:166572716-166572766	SAEC	small airway:	n/a
41	chr1:166572716-166572766	GM12892	blood:	n/a
42	chr1:166590947-166590997	H1-hESC	embryonic stem cell:	embryo
43	chr1:166590947-166590997	HIPEpiC	eye:	n/a
44	chr1:166590947-166590997	CMK	blood:	n/a
45	chr1:166572716-166572766	MCF-7	breast:	n/a
46	chr1:166572716-166572766	SKMC	muscle:	n/a
47	chr1:166572716-166572766	HIPEpiC	eye:	n/a
48	chr1:166572716-166572766	HL-60	blood:	n/a
49	chr1:166590947-166590997	NH-A	brain:	n/a
50	chr1:166590947-166590997	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:
2	chr1:166589682..166592157-chr1:166593940..166597259,3	K562	blood:
3	chr1:166592488..166594055-chr1:166594735..166596268,2	K562	blood:
4	chr1:166582556..166584274-chr1:166807960..166809715,2	MCF-7	breast:
5	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:

Variant related genes	Relation type
FMO9P	TF binding region
FMO9P	CpG island
ENSG00000143157	chromatin interactions

Extended variants
information (count: 566 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:566 , 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	rs6677448	chr1:166571770-166571771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558294857	chr1:166571796-166571797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578110773	chr1:166571843-166571844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543883706	chr1:166571877-166571878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs511943	chr1:166571899-166571900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10918538	chr1:166571949-166571950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573911934	chr1:166571957-166571958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369667754	chr1:166572000-166572001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373863086	chr1:166572006-166572007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559567729	chr1:166572102-166572103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12756626	chr1:166572110-166572111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12731457	chr1:166572111-166572112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528283400	chr1:166572162-166572163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551119014	chr1:166572214-166572215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28396571	chr1:166572216-166572217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28594827	chr1:166572217-166572218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564639120	chr1:166572271-166572272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs71593299	chr1:166572276-166572277	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs56120243	chr1:166572278-166572279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs397751533	chr1:166572288-166572289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550587110	chr1:166572340-166572341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567132362	chr1:166572364-166572365	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182665268	chr1:166572408-166572409	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549427389	chr1:166572475-166572476	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs527601833	chr1:166572487-166572488	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548881765	chr1:166572509-166572510	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566336267	chr1:166572575-166572576	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187039368	chr1:166572580-166572581	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139511842	chr1:166572614-166572615	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs78056154	chr1:166572656-166572657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571808534	chr1:166572690-166572691	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs537526189	chr1:166572707-166572708	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557351968	chr1:166572716-166572717	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs573970472	chr1:166572717-166572718	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs192817209	chr1:166572722-166572723	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs542155083	chr1:166572732-166572733	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs73019635	chr1:166572746-166572747	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565065868	chr1:166572819-166572820	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184427972	chr1:166572840-166572841	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150045146	chr1:166572850-166572851	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189314089	chr1:166572876-166572877	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530549916	chr1:166572899-166572900	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12141694	chr1:166572901-166572902	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561004449	chr1:166572914-166572915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57506145	chr1:166572917-166572918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546530601	chr1:166572977-166572978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368678712	chr1:166573053-166573054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571946503	chr1:166573103-166573104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566423924	chr1:166573120-166573121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530810651	chr1:166573124-166573125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166571400-166572400	Weak transcription	HMEC	breast
2	chr1:166571400-166574400	Weak transcription	K562	blood
3	chr1:166572400-166572800	Enhancers	HMEC	breast
4	chr1:166572800-166573000	Enhancers	Left Ventricle	heart
5	chr1:166574400-166575200	Enhancers	Fetal Heart	heart
6	chr1:166574400-166575400	Enhancers	K562	blood
7	chr1:166575000-166575400	Enhancers	Left Ventricle	heart
8	chr1:166575200-166578400	Weak transcription	Fetal Heart	heart
9	chr1:166575400-166579600	Weak transcription	Left Ventricle	heart
10	chr1:166575400-166579600	Weak transcription	K562	blood
11	chr1:166578400-166580000	Enhancers	Fetal Heart	heart
12	chr1:166579600-166580000	Enhancers	Left Ventricle	heart
13	chr1:166579600-166580400	Enhancers	K562	blood
14	chr1:166580400-166582400	Weak transcription	K562	blood
15	chr1:166582400-166582800	Enhancers	K562	blood
16	chr1:166587200-166587400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:166587400-166587800	Enhancers	Pancreas	Pancrea

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