Variant report

Variant	nsv983280
Chromosome Location	chr12:9787339-9796334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:9791769-9792131	K562	blood:	n/a	n/a
2	CEBPB	chr12:9791065-9791454	MCF-7	breast:	n/a	n/a
3	CEBPB	chr12:9791791-9792140	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:9790997-9791465	MCF-7	breast:	n/a	n/a
5	CEBPB	chr12:9791069-9791499	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr12:9787719-9787975	K562	blood:	n/a	n/a
7	CTCF	chr12:9789520-9789670	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr12:9789920-9790070	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr12:9789521-9789693	A549	lung:	n/a	n/a
10	CTCF	chr12:9789584-9789648	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:9789320-9789470	A549	lung:	n/a	n/a
12	CTCF	chr12:9789540-9789690	BJ	skin:	n/a	n/a
13	CTCF	chr12:9789460-9789610	K562	blood:	n/a	n/a
14	CTCF	chr12:9789620-9789770	HVMF	connective:	n/a	n/a
15	CTCF	chr12:9789520-9789670	BE2_C	brain:	n/a	n/a
16	CTCF	chr12:9789600-9789750	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:9789640-9789790	A549	lung:	n/a	n/a
18	CTCF	chr12:9789440-9789590	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr12:9789520-9789670	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr12:9789660-9789810	GM12872	blood:	n/a	n/a
21	CTCF	chr12:9789500-9789650	GM12864	blood:	n/a	n/a
22	CTCF	chr12:9789493-9789743	K562	blood:	n/a	n/a
23	CTCF	chr12:9789520-9789670	AG04450	lung:	n/a	n/a
24	CTCF	chr12:9789540-9789690	HVMF	connective:	n/a	n/a
25	CTCF	chr12:9789540-9789690	HMF	breast:	n/a	n/a
26	CTCF	chr12:9789460-9789610	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr12:9789580-9789730	BE2_C	brain:	n/a	n/a
28	CTCF	chr12:9789520-9789670	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr12:9789518-9789623	IMR90	lung:	n/a	n/a
30	CTCF	chr12:9789480-9789630	HRE	kidney:	n/a	n/a
31	CTCF	chr12:9789500-9789650	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:9789500-9789650	AG09309	skin:	n/a	n/a
33	CTCF	chr12:9789500-9789650	AG10803	skin:	n/a	n/a
34	CTCF	chr12:9789580-9789730	K562	blood:	n/a	n/a
35	CTCF	chr12:9789620-9789770	HCT-116	colon:	n/a	n/a
36	CTCF	chr12:9789569-9789619	GM12891	blood:	n/a	n/a
37	CTCF	chr12:9789520-9789670	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr12:9789200-9789350	GM12871	blood:	n/a	n/a
39	CTCF	chr12:9789567-9789594	Fibrobl	skin:	n/a	n/a
40	CTCF	chr12:9786385-9787564	SK-N-SH	brain:	n/a	chr12:9786968-9786981 chr12:9786968-9786981 chr12:9786966-9786982 chr12:9786965-9786983 chr12:9786967-9786988
41	CTCF	chr12:9789460-9789610	GM12874	blood:	n/a	n/a
42	CTCF	chr12:9789579-9789608	GM12878	blood:	n/a	n/a
43	CTCF	chr12:9789540-9789690	HepG2	liver:	n/a	n/a
44	CTCF	chr12:9789500-9789650	GM12878	blood:	n/a	n/a
45	CTCF	chr12:9789560-9789710	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr12:9789520-9789670	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr12:9789480-9789630	RPTEC	kidney:	n/a	n/a
48	CTCF	chr12:9786147-9787417	A549	lung:	n/a	chr12:9786968-9786981 chr12:9786968-9786981 chr12:9786966-9786982 chr12:9786965-9786983 chr12:9786967-9786988
49	CTCF	chr12:9789540-9789690	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr12:9789560-9789710	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9786143..9793024-chr12:9797652..9803573,13	MCF-7	breast:
2	chr12:9785588..9787603-chr12:9798282..9800898,2	MCF-7	breast:
3	chr12:9787751..9790027-chr12:9840631..9842655,2	MCF-7	breast:
4	chr12:9786328..9788433-chr12:9788788..9791540,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272917	TF binding region
GOT2P3	TF binding region
ENSG00000256594	TF binding region
ENSG00000256442	chromatin interactions
ENSG00000256594	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569380219	chr12:9787384-9787385	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs80160971	chr12:9787583-9787584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550445297	chr12:9787606-9787607	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567379773	chr12:9787683-9787684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143857177	chr12:9787685-9787686	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528769881	chr12:9787755-9787756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs146850842	chr12:9787807-9787808	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200109341	chr12:9787912-9787913	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553028289	chr12:9787976-9787977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs77532746	chr12:9788019-9788020	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114377973	chr12:9788040-9788041	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113392195	chr12:9788041-9788042	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149652561	chr12:9788174-9788175	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185603271	chr12:9788299-9788300	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190082240	chr12:9788307-9788308	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373918397	chr12:9788377-9788378	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368427258	chr12:9788414-9788415	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537216799	chr12:9788418-9788419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566438398	chr12:9788467-9788468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193042305	chr12:9788482-9788483	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6488065	chr12:9788572-9788573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs184212898	chr12:9788625-9788626	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558791809	chr12:9788741-9788742	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188859004	chr12:9788803-9788804	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181229447	chr12:9788849-9788850	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373095510	chr12:9788921-9788922	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs117152601	chr12:9788965-9788966	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149705968	chr12:9789048-9789049	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183915817	chr12:9789165-9789166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11830007	chr12:9789317-9789318	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189365103	chr12:9789418-9789419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs182203834	chr12:9789440-9789441	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs187237886	chr12:9789443-9789444	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs191608048	chr12:9789480-9789481	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372967240	chr12:9789600-9789601	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs373396928	chr12:9789648-9789649	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181381098	chr12:9789669-9789670	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs145501406	chr12:9789699-9789700	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs370956709	chr12:9789823-9789824	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185865817	chr12:9789828-9789829	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190272917	chr12:9789839-9789840	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369749296	chr12:9789870-9789871	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs148833319	chr12:9789906-9789907	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574595056	chr12:9789922-9789923	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540300401	chr12:9789967-9789968	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs182481600	chr12:9790013-9790014	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs143454453	chr12:9790182-9790183	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74065315	chr12:9790345-9790346	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111292472	chr12:9790368-9790369	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146070864	chr12:9790371-9790372	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Autism	20531469	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
3	chr12:9778200-9787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:9784600-9789600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9784800-9788800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:9784800-9792000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:9785000-9788800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:9785400-9799400	Weak transcription	Fetal Brain Male	brain
9	chr12:9785600-9789200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:9785600-9789800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:9785800-9789200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:9786200-9788800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:9786400-9787600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:9786600-9787400	Enhancers	Fetal Thymus	thymus
15	chr12:9786600-9788000	Enhancers	Dnd41	blood
16	chr12:9786600-9788800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:9786800-9787400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:9786800-9788800	Enhancers	Primary B cells from cord blood	blood
19	chr12:9786800-9789200	Weak transcription	K562	blood
20	chr12:9786800-9792000	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:9787000-9787400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:9787000-9788000	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:9787000-9788400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:9787000-9788400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:9787000-9788800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:9787000-9788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:9787000-9789600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:9787000-9789600	Enhancers	GM12878-XiMat	blood
29	chr12:9787000-9789800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:9787200-9787400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:9787200-9787600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:9787200-9787600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:9787200-9788800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:9787200-9788800	Enhancers	HMEC	breast
35	chr12:9787400-9788800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:9787400-9789400	Enhancers	Primary T cells from cord blood	blood
37	chr12:9787400-9789800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:9787400-9791200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:9787400-9799800	Weak transcription	Pancreas	Pancrea
40	chr12:9787600-9787800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:9787600-9791200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:9787600-9796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:9787800-9788000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:9787800-9788400	Enhancers	NHEK	skin
45	chr12:9787800-9788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:9788000-9788200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:9788000-9788200	Enhancers	A549	lung
48	chr12:9788000-9788600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:9788000-9795000	Weak transcription	Dnd41	blood
50	chr12:9788200-9788600	Enhancers	Primary T helper cells PMA-I stimulated	--

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