Variant report

Variant	esv2760247
Chromosome Location	chr12:58516781-58525282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58516945..58519917-chr17:41466381..41467898,2	K562	blood:
2	chr12:58516925..58518425-chr17:41438461..41440788,2	MCF-7	breast:
3	chr12:58518437..58519937-chr17:41398650..41400282,2	K562	blood:
4	chr11:62607619..62609220-chr12:58516927..58518437,3	MCF-7	breast:
5	chr12:58516937..58519947-chr17:41380326..41383375,3	K562	blood:
6	chr12:58516917..58519927-chr17:41462306..41466156,7	K562	blood:
7	chr12:58518417..58519927-chr17:41463871..41467581,3	MCF-7	breast:
8	chr12:58517945..58518445-chr14:87102303..87102807,2	Hela-S3	cervix:
9	chr12:58516917..58519917-chr3:73158604..73161610,3	K562	blood:
10	chr12:58516937..58518437-chr17:41400928..41402668,2	MCF-7	breast:
11	chr12:58516917..58519927-chr17:41462306..41466299,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545956781	chr12:58516795-58516796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182749013	chr12:58516802-58516803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138529676	chr12:58516815-58516816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532686939	chr12:58516822-58516823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552717527	chr12:58516849-58516850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575781163	chr12:58516862-58516863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71432324	chr12:58516905-58516906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568061443	chr12:58516908-58516909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528873704	chr12:58516926-58516927	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375554957	chr12:58516947-58516948	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs193228516	chr12:58516965-58516966	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs114781204	chr12:58516992-58516993	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs2939817	chr12:58517000-58517001	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs77257379	chr12:58517046-58517047	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571018537	chr12:58517075-58517076	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs535236306	chr12:58517078-58517079	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs34295667	chr12:58517092-58517093	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs76390215	chr12:58517121-58517122	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554822732	chr12:58517136-58517137	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs542188776	chr12:58517149-58517150	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs557104348	chr12:58517150-58517151	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs568779050	chr12:58517170-58517171	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs575616023	chr12:58517242-58517243	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545941646	chr12:58517257-58517258	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs183795379	chr12:58517288-58517289	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs189195005	chr12:58517319-58517320	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs79825486	chr12:58517347-58517348	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs561633763	chr12:58517384-58517385	Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs529203246	chr12:58517410-58517411	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs145383471	chr12:58517450-58517451	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs192279208	chr12:58517454-58517455	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs568727537	chr12:58517456-58517457	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs532954957	chr12:58517473-58517474	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs551451336	chr12:58517486-58517487	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs11443602	chr12:58517591-58517592	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs397742067	chr12:58517599-58517600	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs543485647	chr12:58517628-58517629	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs79430369	chr12:58517655-58517656	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2653869	chr12:58517698-58517699	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538214111	chr12:58517762-58517763	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183966484	chr12:58517804-58517805	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs568712447	chr12:58517854-58517855	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs558252736	chr12:58517891-58517892	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs137925426	chr12:58517991-58517992	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs571762128	chr12:58518011-58518012	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs369646390	chr12:58518041-58518042	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs541230836	chr12:58518055-58518056	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs149564711	chr12:58518094-58518095	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs188496724	chr12:58518095-58518096	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs200289993	chr12:58518105-58518106	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Thoracic aortic aneurysm	21092924	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
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58514000-58517000	Weak transcription	Ovary	ovary
2	chr12:58514200-58517000	Weak transcription	Psoas Muscle	Psoas
3	chr12:58517000-58517400	Active TSS	Ovary	ovary
4	chr12:58524400-58527200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links