Variant report

Variant	nsv1041842
Chromosome Location	chr12:12536207-12546747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
2	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
3	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
4	chr12:12546053..12553032-chr12:12712110..12718542,11	MCF-7	breast:
5	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
6	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:

Variant related genes	Relation type
ENSG00000111266	chromatin interactions

Extended variants
information (count: 479 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12579142	chr12:12536232-12536233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140947376	chr12:12536277-12536278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11054867	chr12:12536324-12536325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562964052	chr12:12536418-12536419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116526948	chr12:12536434-12536435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150213222	chr12:12536448-12536449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574652118	chr12:12536537-12536538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575152878	chr12:12536539-12536540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534561568	chr12:12536568-12536569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547049744	chr12:12536617-12536618	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34334392	chr12:12536681-12536682	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542394780	chr12:12536690-12536691	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368106290	chr12:12536692-12536693	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78306840	chr12:12536715-12536716	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575720440	chr12:12536730-12536731	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35516174	chr12:12536767-12536768	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536938216	chr12:12536773-12536774	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555351123	chr12:12536775-12536776	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532019252	chr12:12536808-12536809	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573456246	chr12:12536827-12536828	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540508420	chr12:12536884-12536885	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181450824	chr12:12536936-12536937	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553523337	chr12:12536949-12536950	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186913158	chr12:12537010-12537011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138896439	chr12:12537015-12537016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190061763	chr12:12537046-12537047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11054869	chr12:12537072-12537073	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548861890	chr12:12537074-12537075	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558957479	chr12:12537107-12537108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140995935	chr12:12537125-12537126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528273772	chr12:12537126-12537127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546450434	chr12:12537157-12537158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571423189	chr12:12537179-12537180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538718189	chr12:12537217-12537218	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551137763	chr12:12537226-12537227	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569273012	chr12:12537301-12537302	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536674376	chr12:12537306-12537307	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200867444	chr12:12537337-12537338	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73279381	chr12:12537417-12537418	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573546373	chr12:12537430-12537431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182283648	chr12:12537439-12537440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558835228	chr12:12537462-12537463	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540461864	chr12:12537464-12537465	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144826502	chr12:12537488-12537489	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114572745	chr12:12537496-12537497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186449581	chr12:12537506-12537507	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563089058	chr12:12537508-12537509	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111662842	chr12:12537595-12537596	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542248755	chr12:12537626-12537627	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560566139	chr12:12537634-12537635	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	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:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
2	chr12:12511400-12540600	Weak transcription	HSMM	muscle
3	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:12512200-12540400	Weak transcription	HMEC	breast
7	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
8	chr12:12516200-12537600	Weak transcription	Dnd41	blood
9	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
11	chr12:12519400-12537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:12519600-12540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:12519800-12537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:12521000-12538000	Weak transcription	Left Ventricle	heart
15	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:12525400-12550200	Weak transcription	Fetal Stomach	stomach
18	chr12:12526000-12541600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:12526400-12537800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:12526400-12540400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:12526400-12540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:12526400-12558800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:12526600-12537600	Weak transcription	K562	blood
24	chr12:12526800-12537600	Weak transcription	Small Intestine	intestine
25	chr12:12526800-12538000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:12529400-12537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:12529600-12541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:12530800-12537600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:12531600-12539000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:12532400-12537400	Enhancers	HepG2	liver
31	chr12:12532400-12540000	Weak transcription	NHEK	skin
32	chr12:12532800-12556400	Weak transcription	Spleen	Spleen
33	chr12:12533000-12537200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:12533000-12537800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:12533000-12537800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:12533000-12542800	Weak transcription	Placenta	Placenta
37	chr12:12533000-12545800	Weak transcription	Pancreas	Pancrea
38	chr12:12533200-12537600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:12533200-12537600	Weak transcription	Thymus	Thymus
40	chr12:12533400-12536600	Weak transcription	Brain Angular Gyrus	brain
41	chr12:12533400-12537000	Weak transcription	Fetal Thymus	thymus
42	chr12:12533400-12540400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:12533400-12555800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:12533600-12537600	Weak transcription	Brain Anterior Caudate	brain
45	chr12:12533600-12537600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:12533600-12537800	Weak transcription	Fetal Lung	lung
47	chr12:12533600-12555400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:12533800-12536600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:12533800-12537400	Weak transcription	Primary T cells from cord blood	blood
50	chr12:12533800-12537400	Weak transcription	Brain Cingulate Gyrus	brain

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