Variant report

Variant	nsv975448
Chromosome Location	chr12:10587805-10600415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 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	chr12:10598779-10599011	GM12878	blood:	n/a	chr12:10598893-10598904
3	BCL11A	chr12:10598783-10598965	GM12878	blood:	n/a	n/a
4	BCL3	chr12:10592167-10592607	A549	lung:	n/a	n/a
5	CEBPB	chr12:10590386-10590401	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:10600201-10600212	A549	lung:	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	chr12:10588520-10588745	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr12:10590272-10590510	K562	blood:	n/a	n/a
11	CEBPB	chr12:10592190-10592807	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr12:10590205-10590581	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr12:10590372-10590413	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:10593080-10593174	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:10593047-10593172	Fibrobl	skin:	n/a	n/a
16	CTCF	chr12:10593072-10593203	GM19239	blood:	n/a	n/a
17	CTCF	chr12:10600167-10600223	LNCaP	prostate:	n/a	n/a
18	CTCF	chr12:10593082-10593151	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:10591453-10591491	A549	lung:	n/a	n/a
20	CTCF	chr12:10593095-10593127	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:10593058-10593183	A549	lung:	n/a	n/a
22	CTCF	chr12:10593076-10593192	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:10592724-10592809	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr12:10593084-10593189	Gliobla	brain:	n/a	n/a
25	CTCF	chr12:10593932-10594014	A549	lung:	n/a	n/a
26	CTCF	chr12:10593138-10593151	NHEK	skin:	n/a	n/a
27	CTCF	chr12:10597587-10597650	Fibrobl	skin:	n/a	n/a
28	ELK1	chr12:10588527-10588719	Hela-S3	cervix:	n/a	n/a
29	EP300	chr12:10592182-10592673	A549	lung:	n/a	n/a
30	EP300	chr12:10592256-10592466	HepG2	liver:	n/a	n/a
31	EP300	chr12:10592290-10592548	Hela-S3	cervix:	n/a	n/a
32	EP300	chr12:10588524-10588752	Hela-S3	cervix:	n/a	chr12:10588711-10588721
33	EP300	chr12:10590365-10590566	Hela-S3	cervix:	n/a	chr12:10590546-10590553 chr12:10590462-10590471
34	EP300	chr12:10592166-10592799	A549	lung:	n/a	n/a
35	ESR1	chr12:10590207-10590434	T-47D	breast:	n/a	chr12:10590337-10590352
36	ESR1	chr12:10590231-10590567	T-47D	breast:	n/a	chr12:10590337-10590352
37	FAM48A	chr12:10588552-10588758	Hela-S3	cervix:	n/a	n/a
38	FOS	chr12:10590370-10590571	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:10598897-10598980	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr12:10588540-10588758	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr12:10592282-10592865	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr12:10592443-10592862	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:10588533-10588731	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr12:10598795-10598956	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:10598962-10598968	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:10590373-10590564	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:10592628-10592864	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:10592306-10592864	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr12:10588532-10588763	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr12:10598884-10598999	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10599740-10599790	HCT-116	colon:	n/a
2	chr12:10588483-10588533	ECC-1	luminal epithelium:	n/a
3	chr12:10588483-10588533	RPTEC	kidney:	n/a
4	chr12:10588483-10588533	AG09309	skin:	n/a
5	chr12:10588483-10588533	GM12891	blood:	n/a
6	chr12:10599740-10599790	HRCEpiC	kidney:	n/a
7	chr12:10588483-10588533	HRPEpiC	eye:	n/a
8	chr12:10599740-10599790	HepG2	liver:	n/a
9	chr12:10599740-10599790	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:10588483-10588533	HepG2	liver:	n/a
11	chr12:10588483-10588533	BE2_C	brain:	n/a
12	chr12:10599740-10599790	LNCaP	prostate:	n/a
13	chr12:10599740-10599790	SK-N-SH_RA	brain:	n/a
14	chr12:10599740-10599790	A549	lung:	n/a
15	chr12:10588483-10588533	GM12892	blood:	n/a
16	chr12:10599740-10599790	ECC-1	luminal epithelium:	n/a
17	chr12:10588483-10588533	Hela-S3	cervix:	n/a
18	chr12:10599740-10599790	CMK	blood:	n/a
19	chr12:10588483-10588533	HRCEpiC	kidney:	n/a
20	chr12:10599740-10599790	HCPEpiC	choroid plexus:	n/a
21	chr12:10599740-10599790	HNPCEpiC	eye:	n/a
22	chr12:10588483-10588533	HCPEpiC	choroid plexus:	n/a
23	chr12:10588483-10588533	Caco-2	colon:	n/a
24	chr12:10599740-10599790	NHDF-neo	bronchial:	n/a
25	chr12:10599740-10599790	BE2_C	brain:	n/a
26	chr12:10599740-10599790	NH-A	brain:	n/a
27	chr12:10588483-10588533	H1-hESC	embryonic stem cell:	embryo
28	chr12:10588483-10588533	NT2-D1	testis:	n/a
29	chr12:10599740-10599790	RPTEC	kidney:	n/a
30	chr12:10599740-10599790	GM12891	blood:	n/a
31	chr12:10599740-10599790	H1-hESC	embryonic stem cell:	embryo
32	chr12:10599740-10599790	GM19239	blood:	n/a
33	chr12:10599740-10599790	HEEpiC	esophagus:	n/a
34	chr12:10588483-10588533	PANC-1	pancreas:	n/a
35	chr12:10599740-10599790	K562	blood:	n/a
36	chr12:10599740-10599790	HRPEpiC	eye:	n/a
37	chr12:10599740-10599790	AG09309	skin:	n/a
38	chr12:10588483-10588533	HRE	kidney:	n/a
39	chr12:10588483-10588533	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:10599740-10599790	IMR90	lung:	fetal
41	chr12:10588483-10588533	HMEC	breast:	n/a
42	chr12:10588483-10588533	AoSMC	blood vessel:	n/a
43	chr12:10588483-10588533	T-47D	breast:	n/a
44	chr12:10599740-10599790	HMEC	breast:	n/a
45	chr12:10599740-10599790	HAEpiC	amniotic membrane:	n/a
46	chr12:10599740-10599790	HRE	kidney:	n/a
47	chr12:10599740-10599790	AG09319	gingival:	n/a
48	chr12:10599740-10599790	PANC-1	pancreas:	n/a
49	chr12:10588483-10588533	NHBE	bronchial:	n/a
50	chr12:10588483-10588533	SK-N-SH_RA	brain:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-6	chr12:10597246-10597382	l_610_chr12:10597245-10602083_whiteBloodCell

No data

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

Extended variants
information (count: 504 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:504 , 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	rs551083640	chr12:10587816-10587817	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565040481	chr12:10587861-10587862	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527356906	chr12:10587878-10587879	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547246830	chr12:10587883-10587884	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567083366	chr12:10587887-10587888	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376307266	chr12:10587889-10587890	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200938482	chr12:10587942-10587943	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536027875	chr12:10587952-10587953	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148303942	chr12:10587954-10587955	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs368882379	chr12:10588012-10588013	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549652679	chr12:10588026-10588027	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569409556	chr12:10588044-10588045	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538278508	chr12:10588046-10588047	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557864610	chr12:10588048-10588049	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577749927	chr12:10588052-10588053	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558485778	chr12:10588081-10588082	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111680143	chr12:10588102-10588103	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553822667	chr12:10588168-10588169	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573504609	chr12:10588176-10588177	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34564759	chr12:10588196-10588197	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149427466	chr12:10588222-10588223	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542375243	chr12:10588223-10588224	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562844385	chr12:10588240-10588241	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111521889	chr12:10588286-10588287	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113029910	chr12:10588297-10588298	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545019771	chr12:10588310-10588311	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113784967	chr12:10588312-10588313	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147526459	chr12:10588331-10588332	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544155214	chr12:10588344-10588345	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377697161	chr12:10588353-10588354	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372993468	chr12:10588362-10588363	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371517651	chr12:10588367-10588368	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376535440	chr12:10588373-10588374	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374205074	chr12:10588383-10588384	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529518672	chr12:10588414-10588415	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113695732	chr12:10588418-10588419	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147031208	chr12:10588420-10588421	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538141639	chr12:10588422-10588423	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138243943	chr12:10588424-10588425	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112954418	chr12:10588439-10588440	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111237999	chr12:10588444-10588445	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143724007	chr12:10588451-10588452	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs111449827	chr12:10588454-10588455	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs574094142	chr12:10588455-10588456	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369621419	chr12:10588475-10588476	Enhancers Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371980904	chr12:10588484-10588485	Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs150565275	chr12:10588518-10588519	Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs75545535	chr12:10588530-10588531	Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs201399315	chr12:10588531-10588532	Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs7956272	chr12:10588565-10588566	Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10584200-10588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:10585800-10589000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10587000-10588000	Weak transcription	Hela-S3	cervix
4	chr12:10588000-10588400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:10588000-10588600	Active TSS	Fetal Thymus	thymus
6	chr12:10588000-10588800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:10588000-10588800	Active TSS	Brain Anterior Caudate	brain
8	chr12:10588000-10588800	Active TSS	Hela-S3	cervix
9	chr12:10588200-10588800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:10588200-10588800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:10588200-10589000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:10588200-10589000	Enhancers	A549	lung
13	chr12:10588200-10589000	Enhancers	HUVEC	blood vessel
14	chr12:10588400-10588800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:10588800-10589400	Enhancers	Hela-S3	cervix
16	chr12:10588800-10592600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:10589000-10590600	Weak transcription	A549	lung
18	chr12:10589000-10591200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:10589400-10593800	Weak transcription	Hela-S3	cervix
20	chr12:10590600-10591200	Enhancers	A549	lung
21	chr12:10590600-10591200	Enhancers	NHEK	skin
22	chr12:10591200-10591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:10591600-10597600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:10593800-10594000	Enhancers	Hela-S3	cervix
25	chr12:10597600-10598000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:10598000-10600800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:10598600-10599800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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