Variant report

Variant	nsv519275
Chromosome Location	chr1:166758542-166767050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:166763651-166763925	GM12878	blood:	n/a	chr1:166763668-166763681 chr1:166763810-166763821
2	CEBPB	chr1:166759731-166759887	K562	blood:	n/a	n/a
3	CTCF	chr1:166765780-166765930	GM12869	blood:	n/a	n/a
4	FOS	chr1:166758523-166758860	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:166758583-166758814	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:166758541-166758814	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr1:166758607-166758612	Hela-S3	cervix:	n/a	n/a
8	MYC	chr1:166758608-166758865	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr1:166758612-166758845	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:166765786-166766072	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:166766091-166766244	MCF-7	breast:	n/a	n/a
12	REST	chr1:166758609-166758898	MCF-7	breast:	n/a	n/a
13	STAT3	chr1:166758612-166758812	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:166758610-166758879	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr1:166761208-166761522	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr1:166758602-166758812	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166766052-166766102	HEEpiC	esophagus:	n/a
2	chr1:166765813-166765863	AG09309	skin:	n/a
3	chr1:166765935-166765985	PFSK-1	brain:	n/a
4	chr1:166765813-166765863	NHBE	bronchial:	n/a
5	chr1:166765813-166765863	HCT-116	colon:	n/a
6	chr1:166765935-166765985	Caco-2	colon:	n/a
7	chr1:166765813-166765863	SKMC	muscle:	n/a
8	chr1:166765935-166765985	H1-hESC	embryonic stem cell:	embryo
9	chr1:166766052-166766102	SKMC	muscle:	n/a
10	chr1:166765935-166765985	HCM	heart:	n/a
11	chr1:166766052-166766102	SK-N-SH_RA	brain:	n/a
12	chr1:166765813-166765863	HL-60	blood:	n/a
13	chr1:166765935-166765985	HL-60	blood:	n/a
14	chr1:166765935-166765985	HEEpiC	esophagus:	n/a
15	chr1:166765935-166765985	GM06990	blood:	n/a
16	chr1:166765935-166765985	HRCEpiC	kidney:	n/a
17	chr1:166766052-166766102	SAEC	small airway:	n/a
18	chr1:166765813-166765863	GM06990	blood:	n/a
19	chr1:166765935-166765985	SKMC	muscle:	n/a
20	chr1:166765935-166765985	SK-N-MC	brain:	n/a
21	chr1:166765813-166765863	GM12891	blood:	n/a
22	chr1:166765935-166765985	GM12878	blood:	n/a
23	chr1:166765935-166765985	NHDF-neo	bronchial:	n/a
24	chr1:166765935-166765985	HNPCEpiC	eye:	n/a
25	chr1:166766052-166766102	HNPCEpiC	eye:	n/a
26	chr1:166766052-166766102	NT2-D1	testis:	n/a
27	chr1:166766052-166766102	ECC-1	luminal epithelium:	n/a
28	chr1:166766052-166766102	AG09319	gingival:	n/a
29	chr1:166766052-166766102	BE2_C	brain:	n/a
30	chr1:166765813-166765863	BE2_C	brain:	n/a
31	chr1:166765813-166765863	Jurkat	blood:	n/a
32	chr1:166765813-166765863	HCF	heart:	n/a
33	chr1:166765935-166765985	HCT-116	colon:	n/a
34	chr1:166766052-166766102	AG10803	skin:	n/a
35	chr1:166765813-166765863	Hepatocyte	liver:	n/a
36	chr1:166766052-166766102	PrEC	prostate:	n/a
37	chr1:166765935-166765985	BE2_C	brain:	n/a
38	chr1:166765813-166765863	SK-N-SH	brain:	n/a
39	chr1:166766052-166766102	HL-60	blood:	n/a
40	chr1:166765935-166765985	HUVEC	blood vessel:	n/a
41	chr1:166765813-166765863	HEK293	kidney:	embryo
42	chr1:166766052-166766102	GM12892	blood:	n/a
43	chr1:166766052-166766102	HRCEpiC	kidney:	n/a
44	chr1:166765813-166765863	HIPEpiC	eye:	n/a
45	chr1:166766052-166766102	GM12878	blood:	n/a
46	chr1:166766052-166766102	ProgFib	skin:	n/a
47	chr1:166766052-166766102	HMEC	breast:	n/a
48	chr1:166765935-166765985	HCPEpiC	choroid plexus:	n/a
49	chr1:166766052-166766102	HCM	heart:	n/a
50	chr1:166765813-166765863	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166759482..166762250-chr1:166763542..166766296,2	K562	blood:
2	chr1:166763412..166765021-chr1:166765368..166768212,2	K562	blood:

No data

Variant related genes	Relation type
CNN2P10	TF binding region
CNN2P10	CpG island
ENSG00000232223	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs480820	chr1:166758542-166758543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150428947	chr1:166758609-166758610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577436496	chr1:166758656-166758657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs858792	chr1:166758737-166758738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559995581	chr1:166758763-166758764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575137459	chr1:166758783-166758784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529875369	chr1:166759483-166759484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77266173	chr1:166759511-166759512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35190630	chr1:166759582-166759583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371055406	chr1:166759596-166759597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs16858068	chr1:166759597-166759598	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562264751	chr1:166759611-166759612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530721072	chr1:166759645-166759646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552555184	chr1:166759705-166759706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150531839	chr1:166759731-166759732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535057794	chr1:166759765-166759766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs193251056	chr1:166759781-166759782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570308412	chr1:166759797-166759798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568485823	chr1:166759828-166759829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536016064	chr1:166759832-166759833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557282145	chr1:166759894-166759895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61818476	chr1:166759985-166759986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539430221	chr1:166759987-166759988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145019300	chr1:166759995-166759996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184531641	chr1:166759998-166759999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188980721	chr1:166760039-166760040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555951681	chr1:166760045-166760046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139371436	chr1:166760065-166760066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144370684	chr1:166760071-166760072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558072609	chr1:166760083-166760084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115746620	chr1:166760102-166760103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540653544	chr1:166760106-166760107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558995954	chr1:166760153-166760154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529767032	chr1:166760192-166760193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541964123	chr1:166760229-166760230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181412281	chr1:166760238-166760239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146639531	chr1:166760255-166760256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185555159	chr1:166760270-166760271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570789942	chr1:166760332-166760333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569755202	chr1:166760367-166760368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376217175	chr1:166760378-166760379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555321	chr1:166760393-166760394	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547034671	chr1:166760503-166760504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535207892	chr1:166760516-166760517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555132998	chr1:166760536-166760537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140160254	chr1:166760545-166760546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189757057	chr1:166760614-166760615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181017085	chr1:166760653-166760654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571955554	chr1:166760695-166760696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139587902	chr1:166760699-166760700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166758400-166758800	Enhancers	HMEC	breast
2	chr1:166766800-166767000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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