Variant report

Variant	esv3343678
Chromosome Location	chr12:60452835-60454933
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	chr12:60448484..60450647-chr12:60452739..60455616,2	K562	blood:
2	chr12:60454406..60456057-chr12:60465200..60468132,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140797440	chr12:60453830-60453831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533314467	chr12:60453831-60453832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547166482	chr12:60453881-60453882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566866616	chr12:60453898-60453899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12369823	chr12:60453909-60453910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368110174	chr12:60453913-60453914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535733391	chr12:60453918-60453919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139812040	chr12:60453959-60453960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547812562	chr12:60453982-60453983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567692833	chr12:60453986-60453987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537166582	chr12:60453994-60453995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556741075	chr12:60454026-60454027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531848325	chr12:60454052-60454053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576972895	chr12:60454062-60454063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539301892	chr12:60454095-60454096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143026553	chr12:60454145-60454146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573201804	chr12:60454149-60454150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545047184	chr12:60454157-60454158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11173308	chr12:60454177-60454178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562079248	chr12:60454190-60454191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575506558	chr12:60454218-60454219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544693159	chr12:60454234-60454235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564467984	chr12:60454236-60454237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144677002	chr12:60454240-60454241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546914603	chr12:60454243-60454244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560293605	chr12:60454275-60454276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187260333	chr12:60454281-60454282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374777769	chr12:60454286-60454287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17123263	chr12:60454295-60454296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148701283	chr12:60454324-60454325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530379231	chr12:60454377-60454378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111393145	chr12:60454398-60454399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530188819	chr12:60454405-60454406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570495996	chr12:60454441-60454442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539496628	chr12:60454466-60454467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553224561	chr12:60454479-60454480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573307056	chr12:60454489-60454490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566636851	chr12:60454539-60454540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74681675	chr12:60454572-60454573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375533747	chr12:60454595-60454596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555651165	chr12:60454628-60454629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369478138	chr12:60454659-60454660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374529381	chr12:60454660-60454661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544318888	chr12:60454682-60454683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558118861	chr12:60454684-60454685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11173309	chr12:60454801-60454802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78003781	chr12:60454807-60454808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560332288	chr12:60454877-60454878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs968106	chr12:60454892-60454893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542917447	chr12:60454907-60454908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60453800-60454600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:60454000-60454600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:60454000-60454600	Enhancers	NHEK	skin
4	chr12:60454200-60454400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:60454400-60464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links