Variant report

Variant	nsv973197
Chromosome Location	chr12:10650348-10662298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10653777-10653877	K562	blood:	n/a	n/a
2	CTCF	chr12:10653715-10653931	A549	lung:	n/a	n/a
3	CTCF	chr12:10653760-10653910	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr12:10653740-10653890	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:10653714-10653911	LNCaP	prostate:	n/a	n/a
6	CTCF	chr12:10653740-10653890	AG09309	skin:	n/a	n/a
7	CTCF	chr12:10653448-10654103	HCT-116	colon:	n/a	n/a
8	CTCF	chr12:10653780-10653930	SAEC	small airway:	n/a	n/a
9	CTCF	chr12:10653740-10653890	GM12866	blood:	n/a	n/a
10	CTCF	chr12:10653642-10653966	IMR90	lung:	n/a	n/a
11	CTCF	chr12:10653720-10653870	AG04450	lung:	n/a	n/a
12	CTCF	chr12:10653650-10653970	A549	lung:	n/a	n/a
13	CTCF	chr12:10653780-10653930	GM12867	blood:	n/a	n/a
14	CTCF	chr12:10653725-10653927	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr12:10653700-10653850	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr12:10653740-10653890	HRE	kidney:	n/a	n/a
17	CTCF	chr12:10653700-10653850	HMF	breast:	n/a	n/a
18	CTCF	chr12:10653760-10653874	Medullo	brain:	n/a	n/a
19	CTCF	chr12:10653731-10653926	K562	blood:	n/a	n/a
20	CTCF	chr12:10653780-10653930	GM12874	blood:	n/a	n/a
21	CTCF	chr12:10653760-10653910	AG04449	skin:	n/a	n/a
22	CTCF	chr12:10653720-10653870	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:10653680-10653830	Caco-2	colon:	n/a	n/a
24	CTCF	chr12:10653800-10653950	HCM	heart:	n/a	n/a
25	CTCF	chr12:10653729-10653920	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr12:10653707-10653947	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr12:10653840-10653990	HVMF	connective:	n/a	n/a
28	CTCF	chr12:10653820-10653970	HMEC	breast:	n/a	n/a
29	CTCF	chr12:10653780-10653930	GM12878	blood:	n/a	n/a
30	CTCF	chr12:10653760-10653910	HMEC	breast:	n/a	n/a
31	CTCF	chr12:10653818-10653864	Gliobla	brain:	n/a	n/a
32	CTCF	chr12:10653584-10654062	A549	lung:	n/a	n/a
33	CTCF	chr12:10653760-10653910	NHEK	skin:	n/a	n/a
34	CTCF	chr12:10653780-10653930	GM12865	blood:	n/a	n/a
35	CTCF	chr12:10653740-10653890	HEK293	kidney:	n/a	n/a
36	CTCF	chr12:10653760-10653910	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr12:10653760-10653910	NB4	blood:	n/a	n/a
38	CTCF	chr12:10653800-10653950	HVMF	connective:	n/a	n/a
39	CTCF	chr12:10653600-10653750	HAc	cerebellar:	n/a	n/a
40	CTCF	chr12:10653720-10653870	HCM	heart:	n/a	n/a
41	CTCF	chr12:10653780-10653930	HPF	lung:	n/a	n/a
42	CTCF	chr12:10653780-10653930	BJ	skin:	n/a	n/a
43	CTCF	chr12:10653640-10653790	HAc	cerebellar:	n/a	n/a
44	CTCF	chr12:10653713-10653872	HepG2	liver:	n/a	n/a
45	CTCF	chr12:10653780-10653930	HCFaa	heart:	n/a	n/a
46	CTCF	chr12:10651260-10651410	Caco-2	colon:	n/a	n/a
47	CTCF	chr12:10653677-10653954	K562	blood:	n/a	n/a
48	CTCF	chr12:10653740-10653890	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr12:10653744-10653913	LNCaP	prostate:	n/a	n/a
50	CTCF	chr12:10653740-10653890	BJ	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10658539-10658589	HCPEpiC	choroid plexus:	n/a
2	chr12:10658281-10658331	SAEC	small airway:	n/a
3	chr12:10658281-10658331	AG04450	lung:	fetal
4	chr12:10658539-10658589	AG04450	lung:	fetal
5	chr12:10658539-10658589	IMR90	lung:	fetal
6	chr12:10658281-10658331	HEK293	kidney:	embryo
7	chr12:10658425-10658475	NHDF-neo	bronchial:	n/a
8	chr12:10658425-10658475	HRCEpiC	kidney:	n/a
9	chr12:10658425-10658475	LNCaP	prostate:	n/a
10	chr12:10658425-10658475	AG04450	lung:	fetal
11	chr12:10658425-10658475	AG04449	skin:	fetal
12	chr12:10658425-10658475	HCT-116	colon:	n/a
13	chr12:10658425-10658475	HIPEpiC	eye:	n/a
14	chr12:10658281-10658331	HL-60	blood:	n/a
15	chr12:10658281-10658331	SKMC	muscle:	n/a
16	chr12:10658281-10658331	AG09319	gingival:	n/a
17	chr12:10658425-10658475	A549	lung:	n/a
18	chr12:10658281-10658331	GM19239	blood:	n/a
19	chr12:10658539-10658589	HRE	kidney:	n/a
20	chr12:10658539-10658589	NHBE	bronchial:	n/a
21	chr12:10658425-10658475	HCM	heart:	n/a
22	chr12:10658281-10658331	AG09309	skin:	n/a
23	chr12:10658539-10658589	SAEC	small airway:	n/a
24	chr12:10658425-10658475	SK-N-SH_RA	brain:	n/a
25	chr12:10658425-10658475	Hela-S3	cervix:	n/a
26	chr12:10658281-10658331	HEEpiC	esophagus:	n/a
27	chr12:10658425-10658475	MCF10A-Er-Src	breast:	n/a
28	chr12:10658281-10658331	HCPEpiC	choroid plexus:	n/a
29	chr12:10658425-10658475	H1-hESC	embryonic stem cell:	embryo
30	chr12:10658425-10658475	Jurkat	blood:	n/a
31	chr12:10658425-10658475	GM12878	blood:	n/a
32	chr12:10658425-10658475	MCF-7	breast:	n/a
33	chr12:10658281-10658331	HNPCEpiC	eye:	n/a
34	chr12:10658539-10658589	CMK	blood:	n/a
35	chr12:10658539-10658589	GM12892	blood:	n/a
36	chr12:10658425-10658475	HUVEC	blood vessel:	n/a
37	chr12:10658539-10658589	MCF-7	breast:	n/a
38	chr12:10658281-10658331	HRE	kidney:	n/a
39	chr12:10658281-10658331	NT2-D1	testis:	n/a
40	chr12:10658425-10658475	HRE	kidney:	n/a
41	chr12:10658425-10658475	AG09309	skin:	n/a
42	chr12:10658425-10658475	HepG2	liver:	n/a
43	chr12:10658539-10658589	Jurkat	blood:	n/a
44	chr12:10658281-10658331	NB4	blood:	n/a
45	chr12:10658539-10658589	AG09319	gingival:	n/a
46	chr12:10658425-10658475	T-47D	breast:	n/a
47	chr12:10658281-10658331	HepG2	liver:	n/a
48	chr12:10658539-10658589	HRPEpiC	eye:	n/a
49	chr12:10658539-10658589	A549	lung:	n/a
50	chr12:10658425-10658475	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10484099..10484956-chr12:10652861..10653779,2	MCF-7	breast:
2	chr12:10388252..10388816-chr12:10653557..10654233,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180574	TF binding region
ENSG00000180574	CpG island

Extended variants
information (count: 277 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138977255	chr12:10650429-10650430	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs554660858	chr12:10650433-10650434	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs75605964	chr12:10650445-10650446	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs77623142	chr12:10650452-10650453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530974045	chr12:10650460-10650461	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs34211590	chr12:10650481-10650482	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs79073821	chr12:10650494-10650495	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs576842951	chr12:10650577-10650578	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs545695184	chr12:10650609-10650610	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs558729589	chr12:10650650-10650651	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs572395727	chr12:10650744-10650745	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs116299112	chr12:10650754-10650755	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs17206822	chr12:10650755-10650756	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4763543	chr12:10650806-10650807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189421486	chr12:10650818-10650819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181980770	chr12:10650827-10650828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4763544	chr12:10650862-10650863	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74863769	chr12:10650883-10650884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73060470	chr12:10650890-10650891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11838020	chr12:10650917-10650918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77352905	chr12:10650924-10650925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11837508	chr12:10650940-10650941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185496593	chr12:10650978-10650979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560488102	chr12:10651027-10651028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550426028	chr12:10651034-10651035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10743901	chr12:10651051-10651052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539381582	chr12:10651071-10651072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540559526	chr12:10651072-10651073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149347097	chr12:10651084-10651085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559102689	chr12:10651095-10651096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148033499	chr12:10651096-10651097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535032618	chr12:10651097-10651098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554650873	chr12:10651114-10651115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574619660	chr12:10651118-10651119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532553880	chr12:10651169-10651170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144694459	chr12:10651215-10651216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563182516	chr12:10651227-10651228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190402064	chr12:10651239-10651240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57845292	chr12:10651251-10651252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148106690	chr12:10651269-10651270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143922509	chr12:10651279-10651280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548206248	chr12:10651409-10651410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60672887	chr12:10651425-10651426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552662330	chr12:10651460-10651461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57357731	chr12:10651462-10651463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs57578974	chr12:10651469-10651470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569348817	chr12:10651471-10651472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57616628	chr12:10651508-10651509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147394435	chr12:10651513-10651514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11053818	chr12:10651522-10651523	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10649800-10651600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:10650200-10650400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:10650200-10651800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10650400-10650800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:10650400-10651000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:10650600-10652000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:10651000-10651800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:10651600-10652000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr12:10651600-10652200	Enhancers	GM12878-XiMat	blood
10	chr12:10651800-10652000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:10652000-10652200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:10652000-10652400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:10652000-10652400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr12:10652400-10656800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:10652800-10654200	Enhancers	Hela-S3	cervix
16	chr12:10653800-10654200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:10653800-10654200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:10655600-10656000	Enhancers	Brain Hippocampus Middle	brain
19	chr12:10656000-10656400	Flanking Active TSS	Brain Hippocampus Middle	brain

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