Variant report

Variant	esv3431497
Chromosome Location	chr12:62004734-62036863
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	chr1:10271685..10272582-chr12:62033319..62034137,2	MCF-7	breast:
2	chr12:61997467..62000090-chr12:62002259..62005246,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530300534	chr12:62004786-62004787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140728266	chr12:62004793-62004794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566658573	chr12:62023429-62023430	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188947085	chr12:62023460-62023461	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs555673790	chr12:62023530-62023531	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191958446	chr12:62023558-62023559	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184751934	chr12:62023672-62023673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557463985	chr12:62023689-62023690	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577704611	chr12:62023814-62023815	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539922483	chr12:62023838-62023839	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560341299	chr12:62023846-62023847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs573867427	chr12:62023892-62023893	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542927893	chr12:62023930-62023931	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563155319	chr12:62023938-62023939	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372557320	chr12:62023957-62023958	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531612706	chr12:62024022-62024023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs1506850	chr12:62024163-62024164	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574588838	chr12:62024172-62024173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565125233	chr12:62024173-62024174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527821608	chr12:62024253-62024254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34669582	chr12:62024262-62024263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190565472	chr12:62024301-62024302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376299321	chr12:62024329-62024330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs180971469	chr12:62024336-62024337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529066375	chr12:62024361-62024362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549018861	chr12:62024430-62024431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569178088	chr12:62024535-62024536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186080682	chr12:62024589-62024590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189762515	chr12:62024644-62024645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370390437	chr12:62024647-62024648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552042313	chr12:62024653-62024654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570886085	chr12:62024691-62024692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146380859	chr12:62024752-62024753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534548927	chr12:62024787-62024788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554429562	chr12:62024821-62024822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181318366	chr12:62024832-62024833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573904603	chr12:62024834-62024835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542764427	chr12:62024838-62024839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139785948	chr12:62024908-62024909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61941850	chr12:62024960-62024961	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545362527	chr12:62024986-62024987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143984479	chr12:62025010-62025011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527661935	chr12:62025011-62025012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185529011	chr12:62025017-62025018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374134809	chr12:62025041-62025042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575891880	chr12:62025056-62025057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs34883668	chr12:62025073-62025074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190724167	chr12:62025110-62025111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145949936	chr12:62025123-62025124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148632692	chr12:62025148-62025149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62003800-62004800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:62023400-62023600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:62023400-62024000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:62023400-62024000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:62023400-62024000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:62023400-62026000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:62023600-62024000	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links