Variant report

Variant	esv3429200
Chromosome Location	chr12:10162800-10163075
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	CHD1	chr12:10163016-10163077	GM12878	blood:	n/a	n/a
2	CTCF	chr12:10162376-10162894	HCT-116	colon:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
3	CTCF	chr12:10162940-10163090	HPF	lung:	n/a	n/a
4	CTCF	chr12:10162880-10163030	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr12:10162940-10163090	Caco-2	colon:	n/a	n/a
6	CTCF	chr12:10162128-10162855	GM12878	blood:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
7	CTCF	chr12:10162940-10163090	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr12:10162880-10163030	BJ	skin:	n/a	n/a
9	CTCF	chr12:10163020-10163170	BE2_C	brain:	n/a	n/a
10	CTCF	chr12:10162920-10163070	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr12:10162527-10162801	HUVEC	blood vessel:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
12	CTCF	chr12:10162460-10162858	H1-hESC	embryonic stem cell:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
13	CTCF	chr12:10162212-10162986	A549	lung:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
14	CTCF	chr12:10162212-10162841	K562	blood:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
15	CTCF	chr12:10162960-10163110	HRE	kidney:	n/a	n/a
16	CTCF	chr12:10162462-10162837	A549	lung:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
17	CTCF	chr12:10162840-10162990	NHEK	skin:	n/a	n/a
18	CTCF	chr12:10162528-10162820	Gliobla	brain:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
19	CTCF	chr12:10163040-10163190	HepG2	liver:	n/a	n/a
20	CTCF	chr12:10162537-10162821	Hela-S3	cervix:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
21	CTCF	chr12:10162462-10162880	A549	lung:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
22	CTCF	chr12:10162530-10162934	MCF-7	breast:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
23	CTCF	chr12:10162860-10163010	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr12:10162544-10162804	MCF-7	breast:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
25	CTCF	chr12:10162469-10162862	IMR90	lung:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
26	CTCF	chr12:10162540-10162818	MCF-7	breast:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
27	CTCF	chr12:10162920-10163070	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr12:10162325-10162997	SK-N-SH	brain:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
29	CTCF	chr12:10162820-10162970	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr12:10162571-10162801	Fibrobl	skin:	n/a	chr12:10162666-10162687 chr12:10162667-10162680 chr12:10162665-10162681 chr12:10162664-10162682
31	CTCF	chr12:10162920-10163070	HEEpiC	esophagus:	n/a	n/a
32	MYC	chr12:10162507-10162803	MCF10A-Er-Src	breast:	n/a	n/a
33	RAD21	chr12:10162489-10162868	H1-hESC	embryonic stem cell:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
34	RAD21	chr12:10162479-10162847	ECC-1	luminal epithelium:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
35	RAD21	chr12:10162454-10162911	H1-hESC	embryonic stem cell:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
36	RAD21	chr12:10162451-10162935	ECC-1	luminal epithelium:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
37	RAD21	chr12:10162547-10162819	HepG2	liver:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
38	RAD21	chr12:10162413-10162889	H1-hESC	embryonic stem cell:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
39	RAD21	chr12:10162453-10162888	A549	lung:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
40	RAD21	chr12:10162577-10162809	HepG2	liver:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
41	RAD21	chr12:10162412-10162989	HCT-116	colon:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
42	RAD21	chr12:10162367-10162939	A549	lung:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
43	RAD21	chr12:10162158-10162821	GM12878	blood:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
44	RAD21	chr12:10162499-10162857	IMR90	lung:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
45	RAD21	chr12:10162482-10162856	Hela-S3	cervix:	n/a	chr12:10162665-10162684 chr12:10162666-10162680 chr12:10162670-10162682
46	SMC3	chr12:10162492-10162816	HepG2	liver:	n/a	chr12:10162666-10162680
47	SMC3	chr12:10162474-10162869	Hela-S3	cervix:	n/a	chr12:10162666-10162680
48	SMC3	chr12:10162207-10162805	GM12878	blood:	n/a	chr12:10162666-10162680
49	ZNF143	chr12:10162511-10162844	GM12878	blood:	n/a	n/a
50	ZNF143	chr12:10162526-10163006	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10163030-10163080	NHBE	bronchial:	n/a
2	chr12:10163030-10163080	A549	lung:	n/a
3	chr12:10163030-10163080	RPTEC	kidney:	n/a
4	chr12:10163030-10163080	HMEC	breast:	n/a
5	chr12:10163030-10163080	AG04450	lung:	fetal
6	chr12:10163030-10163080	PANC-1	pancreas:	n/a
7	chr12:10163030-10163080	SK-N-MC	brain:	n/a
8	chr12:10163030-10163080	GM12891	blood:	n/a
9	chr12:10163030-10163080	HCF	heart:	n/a
10	chr12:10163030-10163080	HRPEpiC	eye:	n/a
11	chr12:10163030-10163080	CMK	blood:	n/a
12	chr12:10163030-10163080	NHDF-neo	bronchial:	n/a
13	chr12:10163030-10163080	IMR90	lung:	fetal
14	chr12:10163030-10163080	ProgFib	skin:	n/a
15	chr12:10163030-10163080	PFSK-1	brain:	n/a
16	chr12:10163030-10163080	HUVEC	blood vessel:	n/a
17	chr12:10163030-10163080	T-47D	breast:	n/a
18	chr12:10163030-10163080	GM12878	blood:	n/a
19	chr12:10163030-10163080	NB4	blood:	n/a
20	chr12:10163030-10163080	HCM	heart:	n/a
21	chr12:10163030-10163080	LNCaP	prostate:	n/a
22	chr12:10163030-10163080	H1-hESC	embryonic stem cell:	embryo
23	chr12:10163030-10163080	HEEpiC	esophagus:	n/a
24	chr12:10163030-10163080	Jurkat	blood:	n/a
25	chr12:10163030-10163080	U87	brain:	n/a
26	chr12:10163030-10163080	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:10163030-10163080	PrEC	prostate:	n/a
28	chr12:10163030-10163080	HCT-116	colon:	n/a
29	chr12:10163030-10163080	HepG2	liver:	n/a
30	chr12:10163030-10163080	ECC-1	luminal epithelium:	n/a
31	chr12:10163030-10163080	HNPCEpiC	eye:	n/a
32	chr12:10163030-10163080	SK-N-SH_RA	brain:	n/a
33	chr12:10163030-10163080	HL-60	blood:	n/a
34	chr12:10163030-10163080	NH-A	brain:	n/a
35	chr12:10163030-10163080	BJ	skin:	n/a
36	chr12:10163030-10163080	AG10803	skin:	n/a
37	chr12:10163030-10163080	BE2_C	brain:	n/a
38	chr12:10163030-10163080	NT2-D1	testis:	n/a
39	chr12:10163030-10163080	GM12892	blood:	n/a
40	chr12:10163030-10163080	MCF-7	breast:	n/a
41	chr12:10163030-10163080	Hela-S3	cervix:	n/a
42	chr12:10163030-10163080	AoSMC	blood vessel:	n/a
43	chr12:10163030-10163080	HIPEpiC	eye:	n/a
44	chr12:10163030-10163080	AG04449	skin:	fetal
45	chr12:10163030-10163080	SAEC	small airway:	n/a
46	chr12:10163030-10163080	HCPEpiC	choroid plexus:	n/a
47	chr12:10163030-10163080	ovcar-3	ovarian:	n/a
48	chr12:10163030-10163080	AG09319	gingival:	n/a
49	chr12:10163030-10163080	HAEpiC	amniotic membrane:	n/a
50	chr12:10163030-10163080	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10162252..10163209-chr12:10292996..10293711,2	MCF-7	breast:
2	chr12:9966874..9967473-chr12:10162556..10163093,2	MCF-7	breast:

Variant related genes	Relation type
CLEC12B	TF binding region
CLEC12B	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66528977	chr12:10162800-10162801	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs67494689	chr12:10162801-10162802	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538331995	chr12:10162803-10162804	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557996676	chr12:10162805-10162806	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs55641585	chr12:10162835-10162836	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs71049033	chr12:10162836-10162837	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112405553	chr12:10162838-10162839	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562112220	chr12:10162878-10162879	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188574603	chr12:10162970-10162971	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540002628	chr12:10162979-10162980	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs180898470	chr12:10162987-10162988	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573561285	chr12:10163014-10163015	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376537525	chr12:10163030-10163031	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs542599541	chr12:10163039-10163040	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs1807355	chr12:10163072-10163073	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10156200-10165200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:10159200-10163200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:10162400-10163000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:10162400-10163000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:10162400-10163000	Enhancers	Hela-S3	cervix
6	chr12:10162400-10163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:10162400-10163800	Enhancers	HUVEC	blood vessel
8	chr12:10162800-10163200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:10162800-10163600	Enhancers	Brain Substantia Nigra	brain
10	chr12:10163000-10163200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:10163000-10163200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:10163000-10163600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:10163000-10163800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:10163000-10165400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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