Variant report

Variant	nsv523233
Chromosome Location	chr12:124561803-124565258
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	chr12:124563279..124565745-chr12:124567751..124569613,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs825461	chr12:124561803-124561804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs60339834	chr12:124561847-124561848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566875762	chr12:124561866-124561867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139904119	chr12:124561884-124561885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149418024	chr12:124561892-124561893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183086845	chr12:124561902-124561903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113122866	chr12:124561939-124561940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539246738	chr12:124561980-124561981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557267786	chr12:124561983-124561984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144843611	chr12:124562000-124562001	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536700787	chr12:124562100-124562101	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555028081	chr12:124562111-124562112	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571125397	chr12:124562141-124562142	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139807197	chr12:124562158-124562159	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143212328	chr12:124562169-124562170	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs866639	chr12:124562171-124562172	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146687865	chr12:124562221-124562222	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565234456	chr12:124562321-124562322	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55835646	chr12:124562331-124562332	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139238964	chr12:124562347-124562348	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563299564	chr12:124562352-124562353	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530524079	chr12:124562446-124562447	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542287251	chr12:124562448-124562449	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547120408	chr12:124562474-124562475	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77424499	chr12:124562490-124562491	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188075898	chr12:124562511-124562512	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56242563	chr12:124562523-124562524	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530445321	chr12:124562527-124562528	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373425604	chr12:124562550-124562551	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551160981	chr12:124562551-124562552	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12311118	chr12:124562624-124562625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184446932	chr12:124562625-124562626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565525723	chr12:124562667-124562668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2130383	chr12:124562681-124562682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536287838	chr12:124562691-124562692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566950566	chr12:124562749-124562750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555784595	chr12:124562806-124562807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547199519	chr12:124562832-124562833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116527180	chr12:124562915-124562916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11057441	chr12:124562949-124562950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558672464	chr12:124562971-124562972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550071142	chr12:124563066-124563067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375539013	chr12:124563071-124563072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577879463	chr12:124563225-124563226	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140833057	chr12:124563282-124563283	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557141635	chr12:124563321-124563322	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575060996	chr12:124563338-124563339	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542397602	chr12:124563352-124563353	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560677128	chr12:124563434-124563435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574224949	chr12:124563494-124563495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124553800-124563200	Weak transcription	Stomach Mucosa	stomach
2	chr12:124557600-124562200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124558800-124562000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:124558800-124562400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:124558800-124565200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:124559600-124571000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:124560400-124562600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:124560800-124562000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:124561800-124562600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:124562000-124562200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:124562000-124562400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:124562000-124562600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:124562200-124562400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:124562200-124562600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:124562400-124562600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:124562400-124567200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:124562400-124577400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:124562600-124563000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:124562600-124563600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:124563000-124563200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:124563200-124563400	Enhancers	Stomach Mucosa	stomach
22	chr12:124563200-124563600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:124563400-124567200	Weak transcription	Stomach Mucosa	stomach
24	chr12:124563600-124563800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:124563800-124565400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:124565200-124565600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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