Variant report

Variant	esv2760275
Chromosome Location	chr12:12530073-12546759
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
2	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
3	chr12:12546053..12553032-chr12:12712110..12718542,11	MCF-7	breast:
4	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
5	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
6	chr12:12508497..12510863-chr12:12526548..12530591,3	MCF-7	breast:
7	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
8	chr12:12529157..12530332-chr12:12857224..12858201,8	MCF-7	breast:
9	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
10	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
11	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
12	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
13	chr12:12529613..12530179-chr12:12808665..12809480,2	MCF-7	breast:
14	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
15	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
16	chr12:12529065..12530274-chr12:12856801..12858158,7	K562	blood:
17	chr12:12529317..12530147-chr12:12808561..12809309,3	K562	blood:
18	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
19	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205791	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000165714	chromatin interactions

Extended variants
information (count: 725 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7306776	chr12:12530100-12530101	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374019598	chr12:12530110-12530111	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs34400274	chr12:12530126-12530127	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs75182169	chr12:12530127-12530128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs571113583	chr12:12530130-12530131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539083580	chr12:12530135-12530136	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs80337611	chr12:12530146-12530147	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs578005661	chr12:12530152-12530153	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543965414	chr12:12530192-12530193	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs545252305	chr12:12530198-12530199	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs189057802	chr12:12530202-12530203	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs151178876	chr12:12530203-12530204	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs573544505	chr12:12530213-12530214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs58029880	chr12:12530238-12530239	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150469341	chr12:12530257-12530258	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145403805	chr12:12530258-12530259	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs61288717	chr12:12530305-12530306	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146909566	chr12:12530321-12530322	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs139008647	chr12:12530325-12530326	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs371435393	chr12:12530346-12530347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs190613179	chr12:12530395-12530396	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs143032428	chr12:12530419-12530420	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147058575	chr12:12530439-12530440	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs115699015	chr12:12530440-12530441	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7307285	chr12:12530498-12530499	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546869797	chr12:12530500-12530501	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567188558	chr12:12530505-12530506	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114758383	chr12:12530530-12530531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs182848543	chr12:12530659-12530660	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148124649	chr12:12530667-12530668	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141257398	chr12:12530686-12530687	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536770125	chr12:12530712-12530713	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7136930	chr12:12530718-12530719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187699219	chr12:12530728-12530729	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112294146	chr12:12530789-12530790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534451781	chr12:12530826-12530827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559331063	chr12:12530831-12530832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577362563	chr12:12530860-12530861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191735391	chr12:12530888-12530889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371942397	chr12:12530929-12530930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563380193	chr12:12530958-12530959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575215704	chr12:12530995-12530996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542334469	chr12:12531017-12531018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560500946	chr12:12531018-12531019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528116616	chr12:12531025-12531026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562169197	chr12:12531028-12531029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187421676	chr12:12531076-12531077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532322241	chr12:12531077-12531078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192169878	chr12:12531157-12531158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574228952	chr12:12531173-12531174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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 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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
2	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
4	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
5	chr12:12511400-12540600	Weak transcription	HSMM	muscle
6	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:12511600-12532800	Weak transcription	Osteobl	bone
8	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:12512200-12540400	Weak transcription	HMEC	breast
14	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
15	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
16	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
17	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:12516200-12537600	Weak transcription	Dnd41	blood
19	chr12:12516400-12535200	Weak transcription	Lung	lung
20	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:12518200-12531800	Weak transcription	Fetal Brain Female	brain
22	chr12:12519200-12531400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:12519200-12532200	Weak transcription	Placenta	Placenta
24	chr12:12519200-12532600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
26	chr12:12519400-12532600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:12519400-12537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:12519600-12540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:12519800-12537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:12520200-12535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:12520800-12532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:12521000-12532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:12521000-12532600	Weak transcription	Brain Anterior Caudate	brain
34	chr12:12521000-12532600	Weak transcription	Ovary	ovary
35	chr12:12521000-12538000	Weak transcription	Left Ventricle	heart
36	chr12:12521200-12532600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:12521800-12530200	Weak transcription	Thymus	Thymus
38	chr12:12521800-12531400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:12522400-12532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:12522400-12532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:12523400-12532600	Weak transcription	NHLF	lung
44	chr12:12525400-12550200	Weak transcription	Fetal Stomach	stomach
45	chr12:12526000-12541600	Weak transcription	Brain Germinal Matrix	brain
46	chr12:12526200-12532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:12526400-12532000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:12526400-12532200	Weak transcription	Pancreas	Pancrea
49	chr12:12526400-12532400	Weak transcription	Primary T cells from cord blood	blood
50	chr12:12526400-12532600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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