Variant report

Variant	nsv872521
Chromosome Location	chr1:166568908-166593683
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	chr1:166583164-166583219	K562	blood:	n/a	n/a
2	BACH1	chr1:166585471-166585771	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:166585472-166585825	K562	blood:	n/a	n/a
4	CEBPB	chr1:166589724-166589993	K562	blood:	n/a	n/a
5	CEBPB	chr1:166572326-166572939	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
6	CEBPB	chr1:166584502-166584549	K562	blood:	n/a	n/a
7	CEBPB	chr1:166587229-166587284	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:166570981-166571218	K562	blood:	n/a	n/a
9	CEBPB	chr1:166572416-166572866	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
10	CTCF	chr1:166587278-166587336	H1-hESC	embryonic stem cell:	n/a	n/a
11	CUX1	chr1:166582185-166582312	K562	blood:	n/a	n/a
12	CUX1	chr1:166574478-166574564	K562	blood:	n/a	n/a
13	E2F4	chr1:166572547-166572893	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F6	chr1:166579805-166579979	K562	blood:	n/a	n/a
15	EGR1	chr1:166572326-166572860	MCF-7	breast:	n/a	n/a
16	EGR1	chr1:166572440-166572910	MCF-7	breast:	n/a	n/a
17	ELF1	chr1:166572385-166572898	MCF-7	breast:	n/a	n/a
18	EP300	chr1:166572432-166572956	MCF-7	breast:	n/a	n/a
19	EP300	chr1:166582244-166582413	K562	blood:	n/a	n/a
20	FOS	chr1:166572414-166572955	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:166572442-166572950	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:166572573-166572930	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:166572542-166572950	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr1:166572389-166572887	MCF-7	breast:	n/a	n/a
25	FOSL2	chr1:166572419-166572885	MCF-7	breast:	n/a	n/a
26	GATA2	chr1:166582257-166582473	SH-SY5Y	brain:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300
27	GATA3	chr1:166572340-166572891	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
28	GATA3	chr1:166581940-166582480	MCF-7	breast:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582043-166582050
29	GATA3	chr1:166589601-166589722	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr1:166572218-166573079	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
31	GATA3	chr1:166572220-166573146	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
32	GATA3	chr1:166582032-166582571	MCF-7	breast:	n/a	chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582293-166582300 chr1:166582043-166582050
33	GATA3	chr1:166572380-166572748	MCF-7	breast:	n/a	chr1:166572492-166572508 chr1:166572554-166572567
34	HDAC2	chr1:166572357-166572896	MCF-7	breast:	n/a	chr1:166572395-166572404
35	HDAC2	chr1:166572488-166572888	MCF-7	breast:	n/a	n/a
36	IRF1	chr1:166585484-166585860	K562	blood:	n/a	n/a
37	IRF1	chr1:166574187-166574216	K562	blood:	n/a	n/a
38	JUND	chr1:166582240-166582285	K562	blood:	n/a	n/a
39	JUND	chr1:166572494-166572897	MCF-7	breast:	n/a	n/a
40	JUND	chr1:166572383-166572896	MCF-7	breast:	n/a	n/a
41	KAP1	chr1:166574100-166574366	K562	blood:	n/a	n/a
42	KAP1	chr1:166584843-166585395	K562	blood:	n/a	n/a
43	MAFF	chr1:166574457-166574662	K562	blood:	n/a	n/a
44	MAFF	chr1:166571190-166571336	K562	blood:	n/a	n/a
45	MAFF	chr1:166585443-166585835	HepG2	liver:	n/a	chr1:166585634-166585652
46	MAFF	chr1:166585445-166585834	K562	blood:	n/a	chr1:166585634-166585652
47	MAFK	chr1:166585232-166586002	GM12878	blood:	n/a	chr1:166585636-166585651
48	MAFK	chr1:166585457-166585863	HepG2	liver:	n/a	chr1:166585636-166585651
49	MAFK	chr1:166568963-166569123	HepG2	liver:	n/a	n/a
50	MAFK	chr1:166585459-166585842	K562	blood:	n/a	chr1:166585636-166585651

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166571691-166571741	SAEC	small airway:	n/a
2	chr1:166572716-166572766	HCT-116	colon:	n/a
3	chr1:166572716-166572766	LNCaP	prostate:	n/a
4	chr1:166590947-166590997	PFSK-1	brain:	n/a
5	chr1:166572716-166572766	SK-N-SH	brain:	n/a
6	chr1:166590947-166590997	HRCEpiC	kidney:	n/a
7	chr1:166571691-166571741	HCM	heart:	n/a
8	chr1:166572716-166572766	HMEC	breast:	n/a
9	chr1:166571691-166571741	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:166571691-166571741	U87	brain:	n/a
11	chr1:166590947-166590997	Caco-2	colon:	n/a
12	chr1:166572716-166572766	MCF10A-Er-Src	breast:	n/a
13	chr1:166572716-166572766	PFSK-1	brain:	n/a
14	chr1:166590947-166590997	HCPEpiC	choroid plexus:	n/a
15	chr1:166571691-166571741	NH-A	brain:	n/a
16	chr1:166572716-166572766	HRE	kidney:	n/a
17	chr1:166572716-166572766	HIPEpiC	eye:	n/a
18	chr1:166572716-166572766	SK-N-MC	brain:	n/a
19	chr1:166590947-166590997	BJ	skin:	n/a
20	chr1:166590947-166590997	HRE	kidney:	n/a
21	chr1:166572716-166572766	HCM	heart:	n/a
22	chr1:166590947-166590997	HepG2	liver:	n/a
23	chr1:166590947-166590997	AG09309	skin:	n/a
24	chr1:166590947-166590997	AG04450	lung:	fetal
25	chr1:166571691-166571741	GM12878	blood:	n/a
26	chr1:166571691-166571741	GM12892	blood:	n/a
27	chr1:166590947-166590997	CMK	blood:	n/a
28	chr1:166572716-166572766	U87	brain:	n/a
29	chr1:166590947-166590997	HAEpiC	amniotic membrane:	n/a
30	chr1:166590947-166590997	ECC-1	luminal epithelium:	n/a
31	chr1:166571691-166571741	MCF10A-Er-Src	breast:	n/a
32	chr1:166590947-166590997	NB4	blood:	n/a
33	chr1:166571691-166571741	HEK293	kidney:	embryo
34	chr1:166571691-166571741	ProgFib	skin:	n/a
35	chr1:166590947-166590997	IMR90	lung:	fetal
36	chr1:166572716-166572766	MCF-7	breast:	n/a
37	chr1:166572716-166572766	H1-hESC	embryonic stem cell:	embryo
38	chr1:166590947-166590997	SKMC	muscle:	n/a
39	chr1:166571691-166571741	NHDF-neo	bronchial:	n/a
40	chr1:166572716-166572766	HRPEpiC	eye:	n/a
41	chr1:166590947-166590997	SK-N-SH	brain:	n/a
42	chr1:166590947-166590997	HIPEpiC	eye:	n/a
43	chr1:166571691-166571741	T-47D	breast:	n/a
44	chr1:166590947-166590997	HCT-116	colon:	n/a
45	chr1:166572716-166572766	GM12891	blood:	n/a
46	chr1:166590947-166590997	ProgFib	skin:	n/a
47	chr1:166572716-166572766	ovcar-3	ovarian:	n/a
48	chr1:166590947-166590997	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:166590947-166590997	SK-N-MC	brain:	n/a
50	chr1:166572716-166572766	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166589682..166592157-chr1:166593940..166597259,3	K562	blood:
2	chr1:166582556..166584274-chr1:166807960..166809715,2	MCF-7	breast:
3	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:
4	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:
5	chr1:166566883..166568406-chr1:166568618..166571458,2	MCF-7	breast:
6	chr1:166592488..166594055-chr1:166594735..166596268,2	K562	blood:

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

Extended variants
information (count: 667 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs510265	chr1:166568908-166568909	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556306082	chr1:166568951-166568952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576162655	chr1:166569005-166569006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184212350	chr1:166569038-166569039	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569246340	chr1:166569046-166569047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561718000	chr1:166569067-166569068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74751646	chr1:166569082-166569083	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188817009	chr1:166569093-166569094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377420549	chr1:166569104-166569105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73019622	chr1:166569120-166569121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532583343	chr1:166569152-166569153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555036292	chr1:166569167-166569168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574985230	chr1:166569181-166569182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562643767	chr1:166569194-166569195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531688694	chr1:166569311-166569312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs513860	chr1:166569330-166569331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559372156	chr1:166569331-166569332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193208505	chr1:166569346-166569347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185263195	chr1:166569443-166569444	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547688423	chr1:166569500-166569501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187263394	chr1:166569533-166569534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs516402	chr1:166569578-166569579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs191836034	chr1:166569579-166569580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556391660	chr1:166569614-166569615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576247494	chr1:166569718-166569719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577369276	chr1:166569741-166569742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546451230	chr1:166569759-166569760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535520161	chr1:166569838-166569839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111247318	chr1:166569871-166569872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113600231	chr1:166569876-166569877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562860496	chr1:166569894-166569895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572029598	chr1:166569906-166569907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576364218	chr1:166569920-166569921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375986542	chr1:166569933-166569934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560422783	chr1:166569999-166570000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183909614	chr1:166570007-166570008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188326079	chr1:166570016-166570017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191233336	chr1:166570043-166570044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138036480	chr1:166570081-166570082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77503256	chr1:166570100-166570101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562010123	chr1:166570109-166570110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527698421	chr1:166570207-166570208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184275470	chr1:166570222-166570223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190389011	chr1:166570323-166570324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115587273	chr1:166570355-166570356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149097665	chr1:166570356-166570357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528486401	chr1:166570381-166570382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113205158	chr1:166570437-166570438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143126082	chr1:166570473-166570474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373812991	chr1:166570556-166570557	Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166559800-166569800	Weak transcription	K562	blood
2	chr1:166569800-166571400	Enhancers	K562	blood
3	chr1:166571000-166571200	Enhancers	HMEC	breast
4	chr1:166571400-166572400	Weak transcription	HMEC	breast
5	chr1:166571400-166574400	Weak transcription	K562	blood
6	chr1:166572400-166572800	Enhancers	HMEC	breast
7	chr1:166572800-166573000	Enhancers	Left Ventricle	heart
8	chr1:166574400-166575200	Enhancers	Fetal Heart	heart
9	chr1:166574400-166575400	Enhancers	K562	blood
10	chr1:166575000-166575400	Enhancers	Left Ventricle	heart
11	chr1:166575200-166578400	Weak transcription	Fetal Heart	heart
12	chr1:166575400-166579600	Weak transcription	Left Ventricle	heart
13	chr1:166575400-166579600	Weak transcription	K562	blood
14	chr1:166578400-166580000	Enhancers	Fetal Heart	heart
15	chr1:166579600-166580000	Enhancers	Left Ventricle	heart
16	chr1:166579600-166580400	Enhancers	K562	blood
17	chr1:166580400-166582400	Weak transcription	K562	blood
18	chr1:166582400-166582800	Enhancers	K562	blood
19	chr1:166587200-166587400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:166587400-166587800	Enhancers	Pancreas	Pancrea

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