Variant report

Variant	nsv557471
Chromosome Location	chr12:10580808-10597036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10592356-10592503	HepG2	liver:	n/a	n/a
2	BATF	chr12:10583308-10583579	GM12878	blood:	n/a	chr12:10583461-10583472
3	BCL11A	chr12:10583293-10583483	GM12878	blood:	n/a	n/a
4	BCL3	chr12:10592167-10592607	A549	lung:	n/a	n/a
5	CEBPB	chr12:10592190-10592807	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:10585773-10585908	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:10592348-10592508	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:10592194-10592559	A549	lung:	n/a	n/a
9	CEBPB	chr12:10590386-10590401	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:10588520-10588745	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:10590205-10590581	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr12:10590272-10590510	K562	blood:	n/a	n/a
13	CHD2	chr12:10590372-10590413	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:10592724-10592809	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr12:10593095-10593127	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:10593932-10594014	A549	lung:	n/a	n/a
17	CTCF	chr12:10582123-10582221	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:10593047-10593172	Fibrobl	skin:	n/a	n/a
19	CTCF	chr12:10593082-10593151	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:10582117-10582206	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:10593084-10593189	Gliobla	brain:	n/a	n/a
22	CTCF	chr12:10593076-10593192	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:10593138-10593151	NHEK	skin:	n/a	n/a
24	CTCF	chr12:10585469-10585543	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr12:10593058-10593183	A549	lung:	n/a	n/a
26	CTCF	chr12:10591453-10591491	A549	lung:	n/a	n/a
27	CTCF	chr12:10593072-10593203	GM19239	blood:	n/a	n/a
28	CTCF	chr12:10582110-10582224	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:10593080-10593174	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:10583540-10583606	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr12:10582121-10582214	MCF-7	breast:	n/a	n/a
32	ELK1	chr12:10588527-10588719	Hela-S3	cervix:	n/a	n/a
33	EP300	chr12:10592256-10592466	HepG2	liver:	n/a	n/a
34	EP300	chr12:10592182-10592673	A549	lung:	n/a	n/a
35	EP300	chr12:10588524-10588752	Hela-S3	cervix:	n/a	chr12:10588711-10588721
36	EP300	chr12:10590365-10590566	Hela-S3	cervix:	n/a	chr12:10590546-10590553 chr12:10590462-10590471
37	EP300	chr12:10592290-10592548	Hela-S3	cervix:	n/a	n/a
38	EP300	chr12:10592166-10592799	A549	lung:	n/a	n/a
39	ESR1	chr12:10590231-10590567	T-47D	breast:	n/a	chr12:10590337-10590352
40	ESR1	chr12:10590207-10590434	T-47D	breast:	n/a	chr12:10590337-10590352
41	FAM48A	chr12:10588552-10588758	Hela-S3	cervix:	n/a	n/a
42	FOS	chr12:10583374-10583566	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:10588513-10588750	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr12:10590373-10590564	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:10590370-10590571	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:10588540-10588758	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:10592443-10592862	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:10590363-10590571	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr12:10583384-10583566	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr12:10592306-10592864	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	chr12:10586130-10586180	GM06990	blood:	n/a
2	chr12:10586130-10586180	NHDF-neo	bronchial:	n/a
3	chr12:10586130-10586180	BJ	skin:	n/a
4	chr12:10583355-10583405	H1-hESC	embryonic stem cell:	embryo
5	chr12:10583355-10583405	SK-N-MC	brain:	n/a
6	chr12:10583355-10583405	ovcar-3	ovarian:	n/a
7	chr12:10586130-10586180	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:10586130-10586180	SK-N-SH	brain:	n/a
9	chr12:10586130-10586180	ProgFib	skin:	n/a
10	chr12:10586130-10586180	HCT-116	colon:	n/a
11	chr12:10588483-10588533	AG10803	skin:	n/a
12	chr12:10588483-10588533	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:10583355-10583405	GM06990	blood:	n/a
14	chr12:10588483-10588533	HRPEpiC	eye:	n/a
15	chr12:10583355-10583405	HCPEpiC	choroid plexus:	n/a
16	chr12:10588483-10588533	HAEpiC	amniotic membrane:	n/a
17	chr12:10586130-10586180	LNCaP	prostate:	n/a
18	chr12:10588483-10588533	SK-N-MC	brain:	n/a
19	chr12:10588483-10588533	Jurkat	blood:	n/a
20	chr12:10588483-10588533	LNCaP	prostate:	n/a
21	chr12:10586130-10586180	SAEC	small airway:	n/a
22	chr12:10588483-10588533	AG09319	gingival:	n/a
23	chr12:10586130-10586180	Jurkat	blood:	n/a
24	chr12:10583355-10583405	NHDF-neo	bronchial:	n/a
25	chr12:10588483-10588533	K562	blood:	n/a
26	chr12:10588483-10588533	H1-hESC	embryonic stem cell:	embryo
27	chr12:10588483-10588533	HIPEpiC	eye:	n/a
28	chr12:10583355-10583405	BJ	skin:	n/a
29	chr12:10586130-10586180	AoSMC	blood vessel:	n/a
30	chr12:10583355-10583405	HIPEpiC	eye:	n/a
31	chr12:10586130-10586180	U87	brain:	n/a
32	chr12:10586130-10586180	HEEpiC	esophagus:	n/a
33	chr12:10583355-10583405	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:10586130-10586180	NHBE	bronchial:	n/a
35	chr12:10583355-10583405	HUVEC	blood vessel:	n/a
36	chr12:10588483-10588533	MCF-7	breast:	n/a
37	chr12:10583355-10583405	SK-N-SH_RA	brain:	n/a
38	chr12:10583355-10583405	GM12891	blood:	n/a
39	chr12:10586130-10586180	HCPEpiC	choroid plexus:	n/a
40	chr12:10586130-10586180	GM12891	blood:	n/a
41	chr12:10588483-10588533	U87	brain:	n/a
42	chr12:10583355-10583405	NHBE	bronchial:	n/a
43	chr12:10583355-10583405	HMEC	breast:	n/a
44	chr12:10586130-10586180	HAEpiC	amniotic membrane:	n/a
45	chr12:10586130-10586180	NH-A	brain:	n/a
46	chr12:10583355-10583405	IMR90	lung:	fetal
47	chr12:10588483-10588533	PrEC	prostate:	n/a
48	chr12:10588483-10588533	NH-A	brain:	n/a
49	chr12:10586130-10586180	CMK	blood:	n/a
50	chr12:10586130-10586180	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255641	TF binding region
KLRC2	TF binding region
ENSG00000255641	CpG island
KLRC2	CpG island
ENSG00000205810	chromatin interactions

Extended variants
information (count: 713 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2734428	chr12:10580808-10580809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2734427	chr12:10580820-10580821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532985194	chr12:10580830-10580831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2682510	chr12:10580844-10580845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34437634	chr12:10580854-10580855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2734426	chr12:10580855-10580856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566693605	chr12:10580876-10580877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145753039	chr12:10580890-10580891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2734425	chr12:10580895-10580896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568529100	chr12:10580979-10580980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537420409	chr12:10580999-10581000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112753375	chr12:10581007-10581008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112430553	chr12:10581011-10581012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10772279	chr12:10581027-10581028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10772280	chr12:10581040-10581041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12816872	chr12:10581043-10581044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12819038	chr12:10581048-10581049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372823614	chr12:10581070-10581071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539688637	chr12:10581083-10581084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553529714	chr12:10581111-10581112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573487797	chr12:10581112-10581113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542523891	chr12:10581140-10581141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34331068	chr12:10581201-10581202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562333270	chr12:10581212-10581213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12818744	chr12:10581234-10581235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544568846	chr12:10581290-10581291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185809510	chr12:10581349-10581350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189417231	chr12:10581359-10581360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546523972	chr12:10581368-10581369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71434137	chr12:10581420-10581421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2460740	chr12:10581446-10581447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs529021000	chr12:10581492-10581493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61917662	chr12:10581514-10581515	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs181620090	chr12:10581550-10581551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537458351	chr12:10581558-10581559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76609728	chr12:10581588-10581589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2682509	chr12:10581591-10581592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2734424	chr12:10581595-10581596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2734423	chr12:10581607-10581608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs2859661	chr12:10581650-10581651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7310503	chr12:10581696-10581697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376107094	chr12:10581710-10581711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71434138	chr12:10581721-10581722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200243051	chr12:10581724-10581725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578201780	chr12:10581729-10581730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146300209	chr12:10581740-10581741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370883146	chr12:10581784-10581785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71447107	chr12:10581790-10581791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71450066	chr12:10581806-10581807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71450067	chr12:10581817-10581818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10573800-10585600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:10575800-10584400	Weak transcription	Hela-S3	cervix
3	chr12:10582600-10584200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:10584200-10588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:10584400-10584600	Strong transcription	Hela-S3	cervix
6	chr12:10584600-10585400	Weak transcription	Hela-S3	cervix
7	chr12:10585400-10585600	Genic enhancers	Hela-S3	cervix
8	chr12:10585600-10585800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:10585600-10586200	Transcr. at gene 5' and 3'	Hela-S3	cervix
10	chr12:10585800-10589000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:10586200-10587000	Active TSS	Hela-S3	cervix
12	chr12:10587000-10588000	Weak transcription	Hela-S3	cervix
13	chr12:10588000-10588400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:10588000-10588600	Active TSS	Fetal Thymus	thymus
15	chr12:10588000-10588800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:10588000-10588800	Active TSS	Brain Anterior Caudate	brain
17	chr12:10588000-10588800	Active TSS	Hela-S3	cervix
18	chr12:10588200-10588800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:10588200-10588800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:10588200-10589000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:10588200-10589000	Enhancers	A549	lung
22	chr12:10588200-10589000	Enhancers	HUVEC	blood vessel
23	chr12:10588400-10588800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:10588800-10589400	Enhancers	Hela-S3	cervix
25	chr12:10588800-10592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:10589000-10590600	Weak transcription	A549	lung
27	chr12:10589000-10591200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:10589400-10593800	Weak transcription	Hela-S3	cervix
29	chr12:10590600-10591200	Enhancers	A549	lung
30	chr12:10590600-10591200	Enhancers	NHEK	skin
31	chr12:10591200-10591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:10591600-10597600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:10593800-10594000	Enhancers	Hela-S3	cervix

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