Variant report

Variant	esv3377937
Chromosome Location	chr12:9938734-9962518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9937628..9939734-chr12:9949484..9951679,2	K562	blood:
2	chr12:9947454..9950415-chr12:9957578..9960317,3	K562	blood:
3	chr12:9903015..9904410-chr12:9949927..9951349,11	K562	blood:
4	chr12:9801031..9803712-chr12:9946954..9949811,3	K562	blood:
5	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:
6	chr12:9937824..9939854-chr12:9940356..9942873,2	K562	blood:
7	chr12:9935876..9938398-chr12:9943768..9945628,3	K562	blood:
8	chr12:9901100..9927208-chr12:9932356..9954328,123	K562	blood:
9	chr12:9906322..9908011-chr12:9937316..9939333,2	K562	blood:
10	chr12:9940606..9942941-chr12:9946721..9948944,2	MCF-7	breast:
11	chr12:9961823..9963762-chr12:9969540..9972518,2	K562	blood:
12	chr12:9936591..9939111-chr12:9947051..9948836,2	K562	blood:
13	chr12:9939384..9941433-chr12:9943747..9946040,4	K562	blood:
14	chr12:9922886..9925340-chr12:9946588..9948897,3	K562	blood:
15	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
16	chr12:9936898..9938906-chr12:9943638..9945628,2	K562	blood:
17	chr12:9903687..9905772-chr12:9958368..9961230,2	K562	blood:
18	chr12:9855011..9857485-chr12:9943793..9945990,2	K562	blood:
19	chr12:9939384..9941433-chr12:9943747..9946040,4	K562	blood:
20	chr12:9903202..9904447-chr12:9950005..9951021,6	MCF-7	breast:
21	chr12:9901213..9901752-chr12:9950468..9951334,2	MCF-7	breast:
22	chr12:9936898..9938906-chr12:9943638..9945628,2	K562	blood:
23	chr12:9947454..9950264-chr12:9957453..9960317,3	K562	blood:
24	chr12:9947454..9950264-chr12:9957453..9960317,3	K562	blood:
25	chr12:9899277..9916007-chr12:9939474..9959569,108	K562	blood:
26	chr12:9908727..9910946-chr12:9954413..9956000,2	K562	blood:
27	chr12:9901140..9901915-chr12:9950375..9951199,4	MCF-7	breast:
28	chr12:9947454..9950415-chr12:9957578..9960317,3	K562	blood:
29	chr12:9910429..9912074-chr12:9961751..9963956,2	K562	blood:
30	chr12:9937824..9939854-chr12:9940356..9942873,2	K562	blood:
31	chr12:9903167..9904499-chr12:9949360..9951288,15	MCF-7	breast:
32	chr12:9937628..9939734-chr12:9949484..9951679,2	K562	blood:
33	chr12:9901254..9903690-chr12:9955687..9957759,2	K562	blood:
34	chr12:9940606..9942941-chr12:9946721..9948944,2	MCF-7	breast:
35	chr12:9936591..9939111-chr12:9947051..9948836,2	K562	blood:
36	chr12:9921450..9923260-chr12:9950246..9952322,2	K562	blood:
37	chr12:9928036..9930338-chr12:9937118..9939542,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110848	chromatin interactions
ENSG00000256912	chromatin interactions
ENSG00000256582	chromatin interactions

Extended variants
information (count: 575 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370573847	chr12:9938790-9938791	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141745928	chr12:9938986-9938987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547658437	chr12:9939004-9939005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377273089	chr12:9939031-9939032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570628901	chr12:9939100-9939101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549020644	chr12:9939142-9939143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115026342	chr12:9939160-9939161	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187634086	chr12:9939178-9939179	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112610414	chr12:9939186-9939187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191948598	chr12:9939194-9939195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374014126	chr12:9939195-9939196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183122097	chr12:9939197-9939198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12423545	chr12:9939224-9939225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12423554	chr12:9939267-9939268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187456473	chr12:9939284-9939285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190344454	chr12:9939323-9939324	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79144634	chr12:9939354-9939355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148125883	chr12:9939485-9939486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58922220	chr12:9939495-9939496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374018790	chr12:9939501-9939502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199805191	chr12:9939503-9939504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535492078	chr12:9939524-9939525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116709706	chr12:9939530-9939531	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139784469	chr12:9939682-9939683	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182516873	chr12:9939727-9939728	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2895990	chr12:9939813-9939814	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7966708	chr12:9939823-9939824	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187634533	chr12:9939923-9939924	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2401399	chr12:9939942-9939943	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147468790	chr12:9939956-9939957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144529445	chr12:9939972-9939973	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373476959	chr12:9939986-9939987	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117940682	chr12:9940019-9940020	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77640277	chr12:9940051-9940052	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192799920	chr12:9940060-9940061	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184342843	chr12:9940096-9940097	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12304686	chr12:9940124-9940125	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2401400	chr12:9940148-9940149	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189172562	chr12:9940164-9940165	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192435488	chr12:9940188-9940189	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4763928	chr12:9940252-9940253	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537727858	chr12:9940288-9940289	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2401401	chr12:9940313-9940314	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139329677	chr12:9940349-9940350	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4763929	chr12:9940350-9940351	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10844804	chr12:9940353-9940354	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201536649	chr12:9940354-9940355	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4763930	chr12:9940357-9940358	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10844805	chr12:9940359-9940360	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11502833	chr12:9940360-9940361	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9927600-9938800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9928400-9945400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:9930000-9945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:9930200-9945800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:9934600-9939800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:9934600-9940000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:9935200-9941200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:9935400-9940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:9936000-9941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:9937200-9940600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:9937400-9939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9937400-9939800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:9937600-9941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:9937800-9940000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:9937800-9941000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:9938000-9938800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:9938400-9938800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9938400-9939000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:9938400-9939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:9938600-9940800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:9938800-9939800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:9938800-9939800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:9938800-9939800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:9938800-9939800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:9938800-9940400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:9939000-9945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:9939400-9939800	Enhancers	Thymus	Thymus
28	chr12:9939600-9939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:9939600-9939800	Enhancers	NH-A	brain
30	chr12:9939600-9940400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:9939600-9940400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:9939600-9940600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:9939800-9940000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:9939800-9940400	Enhancers	Primary T cells from cord blood	blood
35	chr12:9939800-9940400	Active TSS	NH-A	brain
36	chr12:9939800-9940600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:9939800-9941000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:9939800-9943600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:9939800-9943800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:9939800-9945000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:9940000-9940400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:9940000-9940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:9940400-9940600	Enhancers	NH-A	brain
44	chr12:9940400-9940800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:9940400-9940800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:9940400-9940800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:9940600-9945000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:9940600-9945000	Weak transcription	NH-A	brain
49	chr12:9940600-9945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:9940800-9941000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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