Variant report

Variant	nsv516796
Chromosome Location	chr12:12013985-12027745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12026018..12028025-chr12:12033109..12035684,2	MCF-7	breast:
2	chr12:12003194..12007907-chr12:12014129..12016810,4	K562	blood:
3	chr12:11990610..11993601-chr12:12013404..12016369,2	K562	blood:
4	chr12:12014231..12015148-chr12:12106678..12107204,2	MCF-7	breast:
5	chr11:62608627..62609481-chr12:12025415..12025915,2	NB4	blood:
6	chr12:11990610..11993968-chr12:12013101..12016369,3	K562	blood:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 615 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2855709	chr12:12013985-12013986	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs60858679	chr12:12014005-12014006	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529689784	chr12:12014006-12014007	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193239405	chr12:12014024-12014025	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34017222	chr12:12014025-12014026	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566574220	chr12:12014082-12014083	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56239741	chr12:12014191-12014192	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552371005	chr12:12014197-12014198	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185334288	chr12:12014253-12014254	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142189778	chr12:12014271-12014272	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549842678	chr12:12014280-12014281	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563034608	chr12:12014312-12014313	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190230752	chr12:12014356-12014357	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181447563	chr12:12014375-12014376	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2238129	chr12:12014424-12014425	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535859247	chr12:12014429-12014430	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553834339	chr12:12014441-12014442	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572522252	chr12:12014442-12014443	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538745194	chr12:12014468-12014469	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111771603	chr12:12014529-12014530	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545939716	chr12:12014549-12014550	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564587160	chr12:12014592-12014593	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34504308	chr12:12014606-12014607	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184233189	chr12:12014643-12014644	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188564415	chr12:12014658-12014659	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368050334	chr12:12014670-12014671	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78030563	chr12:12014692-12014693	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151221299	chr12:12014710-12014711	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551362084	chr12:12014718-12014719	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73066159	chr12:12014774-12014775	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527396638	chr12:12014775-12014776	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552022009	chr12:12014800-12014801	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55717959	chr12:12014808-12014809	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569630675	chr12:12014819-12014820	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527817375	chr12:12014878-12014879	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547897234	chr12:12014942-12014943	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537159274	chr12:12014969-12014970	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180968984	chr12:12014986-12014987	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186016506	chr12:12014995-12014996	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554149885	chr12:12015087-12015088	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565971009	chr12:12015092-12015093	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551954210	chr12:12015112-12015113	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61924198	chr12:12015139-12015140	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192090094	chr12:12015212-12015213	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368566648	chr12:12015216-12015217	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73277187	chr12:12015227-12015228	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182374360	chr12:12015228-12015229	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574016179	chr12:12015336-12015337	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35535682	chr12:12015357-12015358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2710269	chr12:12015401-12015402	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD

Chromatin state (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11985800-12014800	Weak transcription	Fetal Brain Female	brain
3	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
4	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:11992600-12014600	Weak transcription	NHEK	skin
6	chr12:11992600-12015600	Weak transcription	NHLF	lung
7	chr12:11992600-12015800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:11993000-12019000	Weak transcription	A549	lung
9	chr12:11993600-12014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:11995600-12014000	Weak transcription	Psoas Muscle	Psoas
11	chr12:11996400-12022600	Weak transcription	HSMM	muscle
12	chr12:12004600-12016600	Weak transcription	Ovary	ovary
13	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:12006200-12014800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:12006200-12015200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:12006400-12014000	Strong transcription	Osteobl	bone
17	chr12:12006800-12015600	Weak transcription	NHDF-Ad	bronchial
18	chr12:12008800-12018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:12009000-12018800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:12009400-12017000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:12009400-12017800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:12009600-12014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:12009600-12014200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:12009600-12014200	Strong transcription	Thymus	Thymus
26	chr12:12009600-12014200	Strong transcription	GM12878-XiMat	blood
27	chr12:12009600-12014400	Weak transcription	Pancreas	Pancrea
28	chr12:12009600-12014600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:12009600-12014600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:12009600-12015200	Weak transcription	Small Intestine	intestine
31	chr12:12009600-12016400	Weak transcription	Colonic Mucosa	Colon
32	chr12:12009600-12019400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:12009800-12014400	Strong transcription	NH-A	brain
34	chr12:12010000-12014200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:12010200-12014000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:12010200-12014200	Weak transcription	Stomach Mucosa	stomach
37	chr12:12010200-12014400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:12010200-12014600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:12010400-12014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:12010400-12015400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:12010400-12015800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:12010400-12016200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:12010400-12019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:12010600-12015400	Weak transcription	Brain Anterior Caudate	brain
45	chr12:12010600-12015400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:12010600-12015400	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:12010600-12015600	Weak transcription	HSMMtube	muscle
48	chr12:12010600-12019000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:12010800-12014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:12010800-12015000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links