Variant report

Variant	nsv1047762
Chromosome Location	chr12:12520906-12541869
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
2	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
3	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
4	chr12:12508565..12513346-chr12:12518905..12526361,9	K562	blood:
5	chr12:12524724..12527440-chr12:12848940..12850671,2	MCF-7	breast:
6	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
7	chr12:12518944..12521734-chr12:12847277..12849075,2	MCF-7	breast:
8	chr12:12509843..12512441-chr12:12520561..12523436,3	MCF-7	breast:
9	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
10	chr12:12509354..12513359-chr12:12517458..12522131,6	K562	blood:
11	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
12	chr12:12529317..12530147-chr12:12808561..12809309,3	K562	blood:
13	chr12:12519017..12521870-chr12:12849231..12851723,2	K562	blood:
14	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
15	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
16	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
17	chr12:12529157..12530332-chr12:12857224..12858201,8	MCF-7	breast:
18	chr12:12529613..12530179-chr12:12808665..12809480,2	MCF-7	breast:
19	chr12:12529065..12530274-chr12:12856801..12858158,7	K562	blood:
20	chr12:12523614..12525450-chr12:12713286..12715120,2	MCF-7	breast:
21	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
22	chr12:12508497..12510863-chr12:12526548..12530591,3	MCF-7	breast:
23	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
24	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
25	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
26	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
27	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
28	chr12:12510200..12513346-chr12:12523638..12526361,3	K562	blood:
29	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
30	chr12:12525607..12527513-chrX:39488072..39490988,2	MCF-7	breast:
31	chr12:12526769..12529809-chr12:12714703..12717328,3	K562	blood:
32	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
33	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
34	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183150	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000111266	chromatin interactions

Extended variants
information (count: 888 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552428132	chr12:12520915-12520916	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192996764	chr12:12520925-12520926	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540002647	chr12:12520940-12520941	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114018801	chr12:12520941-12520942	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538316064	chr12:12520961-12520962	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368339327	chr12:12521030-12521031	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114704916	chr12:12521061-12521062	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568404316	chr12:12521129-12521130	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74062518	chr12:12521132-12521133	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149348044	chr12:12521139-12521140	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs61923561	chr12:12521151-12521152	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200336783	chr12:12521186-12521187	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545973651	chr12:12521207-12521208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558666534	chr12:12521215-12521216	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183431102	chr12:12521217-12521218	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188782063	chr12:12521220-12521221	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs56249234	chr12:12521230-12521231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562251456	chr12:12521242-12521243	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574362842	chr12:12521254-12521255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs16907975	chr12:12521306-12521307	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116412809	chr12:12521311-12521312	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11054854	chr12:12521332-12521333	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193072018	chr12:12521349-12521350	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564229153	chr12:12521399-12521400	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376163658	chr12:12521443-12521444	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531547414	chr12:12521472-12521473	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73279335	chr12:12521474-12521475	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73061458	chr12:12521477-12521478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60951870	chr12:12521490-12521491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150645525	chr12:12521530-12521531	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575551924	chr12:12521541-12521542	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs61705812	chr12:12521556-12521557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566082490	chr12:12521571-12521572	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539715988	chr12:12521613-12521614	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55712051	chr12:12521617-12521618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150411523	chr12:12521722-12521723	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558031870	chr12:12521734-12521735	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139649448	chr12:12521736-12521737	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537288175	chr12:12521747-12521748	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184762372	chr12:12521748-12521749	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559679978	chr12:12521784-12521785	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574473710	chr12:12521790-12521791	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541792277	chr12:12521801-12521802	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145261335	chr12:12521805-12521806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572075684	chr12:12521900-12521901	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546080756	chr12:12521915-12521916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188046755	chr12:12521932-12521933	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531534013	chr12:12521946-12521947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533448445	chr12:12521968-12521969	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550028846	chr12:12521991-12521992	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 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:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
6	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
8	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
9	chr12:12511400-12540600	Weak transcription	HSMM	muscle
10	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:12511600-12532800	Weak transcription	Osteobl	bone
12	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:12511800-12526200	Weak transcription	Liver	Liver
15	chr12:12511800-12526800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:12512000-12523200	Weak transcription	Fetal Heart	heart
18	chr12:12512000-12525200	Weak transcription	Fetal Thymus	thymus
19	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:12512200-12525800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:12512200-12526000	Weak transcription	Small Intestine	intestine
23	chr12:12512200-12529800	Weak transcription	Fetal Kidney	kidney
24	chr12:12512200-12540400	Weak transcription	HMEC	breast
25	chr12:12512400-12521400	Weak transcription	Thymus	Thymus
26	chr12:12512400-12525600	Weak transcription	HepG2	liver
27	chr12:12512400-12526400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
29	chr12:12512800-12525800	Weak transcription	K562	blood
30	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
31	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
32	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:12514200-12521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:12516200-12537600	Weak transcription	Dnd41	blood
35	chr12:12516400-12521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:12516400-12529800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:12516400-12535200	Weak transcription	Lung	lung
38	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:12516600-12525000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:12517400-12521200	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:12517400-12521200	Enhancers	Brain Substantia Nigra	brain
42	chr12:12517800-12521000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:12517800-12525800	Weak transcription	Pancreas	Pancrea
44	chr12:12518200-12525000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:12518200-12531800	Weak transcription	Fetal Brain Female	brain
46	chr12:12519200-12521200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:12519200-12521800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:12519200-12522800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:12519200-12524200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:12519200-12529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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