Variant report

Variant	nsv516003
Chromosome Location	chr12:1073052-1078076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1072271..1073120-chr6:39547682..39548186,2	MCF-7	breast:
2	chr12:1075735..1077699-chr12:1099129..1101216,2	K562	blood:
3	chr12:1077962..1080607-chr12:1098127..1100490,3	K562	blood:

Variant related genes	Relation type
ENSG00000002016	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000250132	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6489771	chr12:1073052-1073053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532264900	chr12:1073065-1073066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538786162	chr12:1073068-1073069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151204519	chr12:1073117-1073118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140311636	chr12:1073169-1073170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187819992	chr12:1073198-1073199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150342249	chr12:1073199-1073200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574243179	chr12:1073211-1073212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544281499	chr12:1073287-1073288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556564508	chr12:1073288-1073289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137988308	chr12:1073298-1073299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35908610	chr12:1073301-1073302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545132154	chr12:1073326-1073327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191185783	chr12:1073371-1073372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182287122	chr12:1073430-1073431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542772675	chr12:1073526-1073527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561036627	chr12:1073554-1073555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531002151	chr12:1073591-1073592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549805090	chr12:1073593-1073594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571305523	chr12:1073602-1073603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532132702	chr12:1073603-1073604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549509248	chr12:1073637-1073638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547546977	chr12:1073674-1073675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142447046	chr12:1073698-1073699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534146851	chr12:1073716-1073717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567346245	chr12:1073721-1073722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528750393	chr12:1073758-1073759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12812789	chr12:1073779-1073780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567753344	chr12:1073813-1073814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374559248	chr12:1073819-1073820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538568245	chr12:1073892-1073893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144630111	chr12:1073898-1073899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553675355	chr12:1073909-1073910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571288094	chr12:1074005-1074006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112854788	chr12:1074122-1074123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377644329	chr12:1074124-1074125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374814205	chr12:1074127-1074128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201644340	chr12:1074130-1074131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367657317	chr12:1074131-1074132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112592972	chr12:1074132-1074133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56850385	chr12:1074147-1074148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142735737	chr12:1074148-1074149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538784933	chr12:1074149-1074150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544973797	chr12:1074168-1074169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188004816	chr12:1074202-1074203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138518388	chr12:1074252-1074253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542462030	chr12:1074262-1074263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561184810	chr12:1074292-1074293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531395746	chr12:1074303-1074304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192475000	chr12:1074306-1074307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	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
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1063200-1090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1068000-1097600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:1068000-1098600	Weak transcription	Aorta	Aorta
4	chr12:1068200-1086200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:1071000-1088600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:1072800-1097800	Weak transcription	Pancreas	Pancrea
7	chr12:1073000-1073400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1073000-1073800	Enhancers	Placenta	Placenta
9	chr12:1073200-1099600	Weak transcription	Gastric	stomach
10	chr12:1074200-1097200	Weak transcription	Fetal Stomach	stomach
11	chr12:1074400-1077400	Weak transcription	A549	lung
12	chr12:1075600-1076000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:1075600-1076200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:1075600-1076200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:1075800-1076200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:1075800-1076400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:1076200-1097600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:1076400-1097600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:1076400-1097600	Weak transcription	Fetal Intestine Small	intestine
20	chr12:1076800-1078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:1077200-1077400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:1077200-1077600	Enhancers	Fetal Brain Male	brain
23	chr12:1077200-1077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:1077200-1078000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:1077400-1078000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:1077400-1078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:1077400-1078000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:1077400-1078000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:1077400-1078000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:1077400-1078200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:1077400-1078200	Enhancers	A549	lung
32	chr12:1077400-1078400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:1077600-1078000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:1077600-1078000	Enhancers	Brain Anterior Caudate	brain
35	chr12:1077600-1078400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:1077600-1097600	Weak transcription	Fetal Brain Male	brain
37	chr12:1077800-1078000	Enhancers	Brain Hippocampus Middle	brain
38	chr12:1077800-1078000	Enhancers	Fetal Brain Female	brain
39	chr12:1077800-1097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:1078000-1086000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:1078000-1097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:1078000-1097600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:1078000-1097600	Weak transcription	Fetal Brain Female	brain
44	chr12:1078000-1099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links