Variant report

Variant	nsv826173
Chromosome Location	chr12:768106-769300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:750256..753677-chr12:768929..774136,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177406	chromatin interactions
ENSG00000171840	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188894842	chr12:768134-768135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557561103	chr12:768175-768176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7304273	chr12:768190-768191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547199013	chr12:768192-768193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568641916	chr12:768200-768201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536183304	chr12:768217-768218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201083426	chr12:768219-768220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71293139	chr12:768220-768221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34183190	chr12:768229-768230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139157130	chr12:768244-768245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56102442	chr12:768255-768256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556929880	chr12:768269-768270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370278810	chr12:768288-768289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575237241	chr12:768301-768302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74873091	chr12:768324-768325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12303868	chr12:768367-768368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs12301300	chr12:768377-768378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs572963916	chr12:768405-768406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540040125	chr12:768471-768472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561960773	chr12:768492-768493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73037145	chr12:768575-768576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372313504	chr12:768611-768612	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185368693	chr12:768626-768627	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190903181	chr12:768647-768648	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545266621	chr12:768661-768662	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574723000	chr12:768690-768691	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551475284	chr12:768713-768714	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144101777	chr12:768718-768719	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150253960	chr12:768732-768733	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76914074	chr12:768745-768746	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs546867418	chr12:768822-768823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148664762	chr12:768830-768831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182949179	chr12:768852-768853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550871728	chr12:768866-768867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12307171	chr12:768874-768875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs11064120	chr12:768966-768967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs558159587	chr12:768978-768979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573248159	chr12:768988-768989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142163467	chr12:768989-768990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535923840	chr12:768991-768992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573869631	chr12:769074-769075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs151179402	chr12:769086-769087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573788793	chr12:769114-769115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11064121	chr12:769122-769123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs562794950	chr12:769129-769130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs59593338	chr12:769181-769182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs545003101	chr12:769184-769185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs11064122	chr12:769230-769231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs534429278	chr12:769256-769257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11610339	chr12:769277-769278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:753200-772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:753400-776000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:754400-770600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:754600-770400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:756600-771000	Weak transcription	Spleen	Spleen
6	chr12:756800-770600	Weak transcription	Right Ventricle	heart
7	chr12:756800-776000	Weak transcription	A549	lung
8	chr12:757000-768600	Weak transcription	Fetal Thymus	thymus
9	chr12:760400-771200	Weak transcription	Right Atrium	heart
10	chr12:760600-776600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:764600-770800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:764600-770800	Weak transcription	Fetal Heart	heart
13	chr12:766400-769600	Enhancers	Primary B cells from cord blood	blood
14	chr12:766800-769200	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:767200-769400	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:767400-768600	Enhancers	Brain Hippocampus Middle	brain
17	chr12:767400-769200	Enhancers	Brain Substantia Nigra	brain
18	chr12:767400-769400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:767800-769200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:767800-769200	Enhancers	Brain Angular Gyrus	brain
21	chr12:767800-769200	Enhancers	Brain Anterior Caudate	brain
22	chr12:768000-768600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:768000-769400	Enhancers	GM12878-XiMat	blood
24	chr12:768200-770600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:768400-771800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:768600-768800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:768600-768800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:768600-768800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:768600-769000	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:768600-769600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:768600-771400	Enhancers	Fetal Thymus	thymus
32	chr12:768800-769600	Enhancers	Brain Hippocampus Middle	brain
33	chr12:768800-771400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:769000-771400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:769200-769600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:769200-770600	Weak transcription	Brain Anterior Caudate	brain
37	chr12:769200-770600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:769200-770600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:769200-770800	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links