Variant report

Variant	nsv975404
Chromosome Location	chr12:10102404-10114263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:10109941-10110065	GM13976	blood:	n/a	n/a
2	EBF1	chr12:10104115-10104309	GM12878	blood:	n/a	chr12:10104264-10104275
3	EBF1	chr12:10103687-10103960	GM12878	blood:	n/a	n/a
4	FOXA1	chr12:10113170-10113461	HepG2	liver:	n/a	n/a
5	GATA3	chr12:10112662-10113040	MCF-7	breast:	n/a	n/a
6	MAX	chr12:10103697-10104033	NB4	blood:	n/a	n/a
7	MYC	chr12:10103616-10103972	NB4	blood:	n/a	n/a
8	NFYB	chr12:10103763-10104004	GM12878	blood:	n/a	n/a
9	NR2F2	chr12:10106455-10106716	K562	blood:	n/a	n/a
10	POLR2A	chr12:10106057-10106162	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:10110420-10110808	SK-N-MC	brain:	n/a	n/a
12	RUNX3	chr12:10103624-10104022	GM12878	blood:	n/a	n/a
13	RUNX3	chr12:10103626-10104073	GM12878	blood:	n/a	n/a
14	SP1	chr12:10106014-10106202	HepG2	liver:	n/a	n/a
15	SPI1	chr12:10113279-10113565	GM12891	blood:	n/a	n/a
16	SPI1	chr12:10113137-10113482	GM12891	blood:	n/a	n/a
17	SPI1	chr12:10113766-10113976	GM12878	blood:	n/a	n/a
18	SPI1	chr12:10113073-10113507	GM12878	blood:	n/a	n/a
19	STAT3	chr12:10108694-10108788	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10103165-10103215	AG04450	lung:	fetal
2	chr12:10103812-10103862	GM19239	blood:	n/a
3	chr12:10107302-10107352	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:10102820-10102870	SK-N-SH_RA	brain:	n/a
5	chr12:10107302-10107352	GM12878	blood:	n/a
6	chr12:10102820-10102870	NHBE	bronchial:	n/a
7	chr12:10107302-10107352	Hepatocyte	liver:	n/a
8	chr12:10103165-10103215	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:10102820-10102870	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:10102820-10102870	HNPCEpiC	eye:	n/a
11	chr12:10102820-10102870	HIPEpiC	eye:	n/a
12	chr12:10103165-10103215	NHDF-neo	bronchial:	n/a
13	chr12:10103812-10103862	RPTEC	kidney:	n/a
14	chr12:10107302-10107352	AG10803	skin:	n/a
15	chr12:10103165-10103215	GM19239	blood:	n/a
16	chr12:10102820-10102870	GM12891	blood:	n/a
17	chr12:10107302-10107352	Jurkat	blood:	n/a
18	chr12:10107302-10107352	SK-N-SH	brain:	n/a
19	chr12:10103812-10103862	GM12891	blood:	n/a
20	chr12:10103812-10103862	MCF10A-Er-Src	breast:	n/a
21	chr12:10102820-10102870	NT2-D1	testis:	n/a
22	chr12:10102820-10102870	GM19239	blood:	n/a
23	chr12:10107302-10107352	AG04450	lung:	fetal
24	chr12:10103165-10103215	HUVEC	blood vessel:	n/a
25	chr12:10107302-10107352	HEEpiC	esophagus:	n/a
26	chr12:10103812-10103862	H1-hESC	embryonic stem cell:	embryo
27	chr12:10107302-10107352	SAEC	small airway:	n/a
28	chr12:10103812-10103862	AoSMC	blood vessel:	n/a
29	chr12:10107302-10107352	Caco-2	colon:	n/a
30	chr12:10107302-10107352	RPTEC	kidney:	n/a
31	chr12:10103812-10103862	BE2_C	brain:	n/a
32	chr12:10103812-10103862	HIPEpiC	eye:	n/a
33	chr12:10107302-10107352	HRCEpiC	kidney:	n/a
34	chr12:10107302-10107352	HRE	kidney:	n/a
35	chr12:10107302-10107352	NB4	blood:	n/a
36	chr12:10103165-10103215	BJ	skin:	n/a
37	chr12:10103165-10103215	BE2_C	brain:	n/a
38	chr12:10103812-10103862	AG10803	skin:	n/a
39	chr12:10107302-10107352	GM06990	blood:	n/a
40	chr12:10102820-10102870	HepG2	liver:	n/a
41	chr12:10107302-10107352	AG09309	skin:	n/a
42	chr12:10102820-10102870	Hela-S3	cervix:	n/a
43	chr12:10103165-10103215	HCT-116	colon:	n/a
44	chr12:10103165-10103215	MCF-7	breast:	n/a
45	chr12:10107302-10107352	AoSMC	blood vessel:	n/a
46	chr12:10103165-10103215	HCF	heart:	n/a
47	chr12:10103165-10103215	GM12892	blood:	n/a
48	chr12:10103812-10103862	NB4	blood:	n/a
49	chr12:10103165-10103215	HMEC	breast:	n/a
50	chr12:10103165-10103215	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10111543..10114213-chr12:10132287..10134141,2	K562	blood:
2	chr12:9907740..9910735-chr12:10101487..10103775,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231560	TF binding region
CLEC12A	TF binding region
ENSG00000231560	CpG island
CLEC12A	CpG island

Extended variants
information (count: 449 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569052487	chr12:10102435-10102436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538143105	chr12:10102437-10102438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7302084	chr12:10102441-10102442	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527815671	chr12:10102497-10102498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74984268	chr12:10102501-10102502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182007065	chr12:10102502-10102503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553565532	chr12:10102514-10102515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187167404	chr12:10102546-10102547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542049033	chr12:10102565-10102566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377071450	chr12:10102605-10102606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376967657	chr12:10102691-10102692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531068018	chr12:10102699-10102700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368652205	chr12:10102705-10102706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369922892	chr12:10102716-10102717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544518601	chr12:10102719-10102720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117171547	chr12:10102810-10102811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191984532	chr12:10102900-10102901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73251708	chr12:10102916-10102917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151229400	chr12:10102985-10102986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116937170	chr12:10102987-10102988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181669465	chr12:10103001-10103002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569044153	chr12:10103019-10103020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140391272	chr12:10103021-10103022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376463429	chr12:10103143-10103144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558108974	chr12:10103169-10103170	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs76427726	chr12:10103208-10103209	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs145494791	chr12:10103231-10103232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12423649	chr12:10103297-10103298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74065420	chr12:10103353-10103354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542715538	chr12:10103423-10103424	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372536320	chr12:10103447-10103448	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555645972	chr12:10103591-10103592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575453643	chr12:10103662-10103663	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544428503	chr12:10103688-10103689	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190122224	chr12:10103689-10103690	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182318660	chr12:10103712-10103713	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs577957864	chr12:10103743-10103744	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535291144	chr12:10103765-10103766	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540263534	chr12:10103784-10103785	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138031783	chr12:10103812-10103813	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs377228398	chr12:10103834-10103835	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs551530871	chr12:10103837-10103838	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs529330422	chr12:10103871-10103872	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555210485	chr12:10103874-10103875	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142509854	chr12:10103898-10103899	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531512883	chr12:10103923-10103924	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113684399	chr12:10103943-10103944	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572016928	chr12:10103970-10103971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551638853	chr12:10103978-10103979	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113263733	chr12:10103994-10103995	Enhancers Flanking Active TSS Weak transcription	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10096400-10104800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:10098400-10103400	Enhancers	Primary T cells from cord blood	blood
3	chr12:10099400-10104800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:10100400-10102800	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:10100600-10104800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:10100600-10104800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:10100800-10103600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:10100800-10104800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:10101000-10102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:10101000-10104800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:10101600-10102800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:10101600-10103000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:10101800-10104800	Enhancers	Fetal Thymus	thymus
14	chr12:10102000-10102600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:10102000-10103000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:10102000-10103000	Weak transcription	Dnd41	blood
17	chr12:10102000-10103400	Weak transcription	Primary B cells from cord blood	blood
18	chr12:10102000-10103400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:10102000-10103400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:10102000-10103600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:10102000-10104000	Weak transcription	Placenta	Placenta
22	chr12:10102200-10103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:10102200-10103400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:10102200-10103400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:10102200-10104600	Enhancers	GM12878-XiMat	blood
26	chr12:10102400-10102800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:10102400-10102800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:10102600-10103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:10102800-10103200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:10102800-10103600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:10102800-10103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:10102800-10104800	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:10103000-10103400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:10103000-10103600	Enhancers	Dnd41	blood
35	chr12:10103000-10104800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:10103000-10104800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:10103200-10103400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:10103200-10104800	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:10103400-10103800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:10103400-10104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:10103400-10104400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:10103400-10104600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:10103400-10104600	Enhancers	Primary B cells from cord blood	blood
44	chr12:10103400-10104600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr12:10103400-10104600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:10103400-10104600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr12:10103400-10104800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:10103600-10103800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:10103600-10104400	Flanking Active TSS	Dnd41	blood
50	chr12:10103600-10104600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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