Variant report

Variant	nsv469193
Chromosome Location	chr12:31133065-31150183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
2	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
3	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
4	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
5	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
6	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:

Extended variants
information (count: 735 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11051196	chr12:31133065-31133066	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189605185	chr12:31133088-31133089	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs527962966	chr12:31133128-31133129	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs74086355	chr12:31133139-31133140	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561429494	chr12:31133209-31133210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs567027408	chr12:31133217-31133218	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs144134727	chr12:31133222-31133223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs35094	chr12:31133251-31133252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532553304	chr12:31133319-31133320	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs372123181	chr12:31133371-31133372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs4931398	chr12:31133420-31133421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146521128	chr12:31133487-31133488	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs536101606	chr12:31133500-31133501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548021894	chr12:31133525-31133526	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569510481	chr12:31133530-31133531	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536774173	chr12:31133556-31133557	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541564395	chr12:31133592-31133593	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs201069735	chr12:31133654-31133655	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs4931400	chr12:31133655-31133656	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141149007	chr12:31133656-31133657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs4931401	chr12:31133664-31133665	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572789003	chr12:31133723-31133724	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs373300958	chr12:31133727-31133728	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs564236811	chr12:31133749-31133750	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs74657898	chr12:31133751-31133752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576690519	chr12:31133763-31133764	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs144589295	chr12:31133814-31133815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4931402	chr12:31133820-31133821	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34747984	chr12:31133871-31133872	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532451304	chr12:31133872-31133873	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547776998	chr12:31133896-31133897	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151155050	chr12:31133901-31133902	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150738672	chr12:31133929-31133930	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373220411	chr12:31133950-31133951	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529983478	chr12:31133975-31133976	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548058012	chr12:31133982-31133983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12819154	chr12:31133993-31133994	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7313690	chr12:31134063-31134064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35093	chr12:31134068-31134069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552059059	chr12:31134069-31134070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56814048	chr12:31134102-31134103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs207472785	chr12:31134135-31134136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386761709	chr12:31134143-31134144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10743746	chr12:31134165-31134166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113240582	chr12:31134170-31134171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35091	chr12:31134171-31134172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536975361	chr12:31134186-31134187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555316188	chr12:31134200-31134201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576780450	chr12:31134220-31134221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543995693	chr12:31134224-31134225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31122800-31133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:31128200-31133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:31128200-31134600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:31128400-31142800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:31128600-31135800	Enhancers	Fetal Stomach	stomach
6	chr12:31129000-31133800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr12:31129200-31134400	Enhancers	Fetal Muscle Leg	muscle
8	chr12:31129800-31142800	Weak transcription	Fetal Brain Male	brain
9	chr12:31130200-31133600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:31130400-31133600	Weak transcription	Fetal Thymus	thymus
11	chr12:31130600-31133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:31130600-31135600	Enhancers	Spleen	Spleen
13	chr12:31130600-31136600	Enhancers	Fetal Heart	heart
14	chr12:31130600-31137000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:31130800-31152600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:31131400-31133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:31131600-31133400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:31131600-31135200	Enhancers	Brain Hippocampus Middle	brain
19	chr12:31131600-31142600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:31132000-31133200	Enhancers	Stomach Smooth Muscle	stomach
21	chr12:31132000-31134400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:31132200-31134800	Enhancers	Left Ventricle	heart
23	chr12:31132200-31135200	Enhancers	Right Ventricle	heart
24	chr12:31132400-31133400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:31132600-31133200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:31132600-31133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:31132600-31133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:31132600-31133400	Enhancers	Colon Smooth Muscle	Colon
29	chr12:31132600-31133800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:31132600-31134200	Enhancers	Fetal Lung	lung
31	chr12:31132600-31134800	Enhancers	Brain Substantia Nigra	brain
32	chr12:31132800-31133200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:31132800-31133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:31132800-31133400	Enhancers	Adipose Nuclei	Adipose
35	chr12:31132800-31133400	Enhancers	Right Atrium	heart
36	chr12:31132800-31135000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:31132800-31141800	Weak transcription	Fetal Brain Female	brain
38	chr12:31133000-31133200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:31133000-31133200	Enhancers	HSMMtube	muscle
40	chr12:31133000-31133400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr12:31133000-31135000	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:31133200-31134200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:31133400-31133800	Weak transcription	Right Atrium	heart
44	chr12:31133600-31134200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:31133600-31134400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:31133600-31134600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:31133600-31134600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:31133600-31134600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:31133600-31134800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:31133600-31134800	Enhancers	Brain Angular Gyrus	brain

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