Variant report

Variant	esv2627708
Chromosome Location	chr12:41872658-41874071
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	chr12:41867305..41870215-chr12:41872382..41875248,2	K562	blood:

Variant related genes	Relation type
ENSG00000257228	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570170667	chr12:41872670-41872671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76225177	chr12:41872709-41872710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11180943	chr12:41872743-41872744	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146694805	chr12:41872771-41872772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188731585	chr12:41872814-41872815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372130533	chr12:41872824-41872825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34277586	chr12:41872841-41872842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374826779	chr12:41872891-41872892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574646779	chr12:41872937-41872938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535765824	chr12:41872940-41872941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192168136	chr12:41872980-41872981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184486475	chr12:41873004-41873005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148827530	chr12:41873027-41873028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563917599	chr12:41873029-41873030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2254521	chr12:41873086-41873087	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs139364091	chr12:41873095-41873096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376537599	chr12:41873098-41873099	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563643557	chr12:41873153-41873154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543066916	chr12:41873268-41873269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11180944	chr12:41873322-41873323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529418859	chr12:41873324-41873325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547562162	chr12:41873376-41873377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143475975	chr12:41873403-41873404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550081683	chr12:41873537-41873538	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190371233	chr12:41873553-41873554	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551797220	chr12:41873556-41873557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148007764	chr12:41873557-41873558	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11180945	chr12:41873637-41873638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11180946	chr12:41873640-41873641	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568286204	chr12:41873645-41873646	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535676341	chr12:41873646-41873647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73130648	chr12:41873672-41873673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560680008	chr12:41873717-41873718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572346865	chr12:41873726-41873727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539349904	chr12:41873787-41873788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11180947	chr12:41873843-41873844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116406475	chr12:41873845-41873846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543134391	chr12:41873860-41873861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532203735	chr12:41873939-41873940	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182526010	chr12:41873946-41873947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185784225	chr12:41874015-41874016	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41870800-41873000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41871200-41872800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:41871200-41873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:41871200-41873000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:41871200-41873000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:41871200-41873200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:41871400-41873000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:41871400-41873000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:41872800-41874000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:41872800-41874400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:41873000-41873600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:41873000-41873800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:41873000-41874000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:41873000-41874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:41873000-41874200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:41873200-41873400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:41873200-41873400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:41873200-41873600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:41873400-41873600	Enhancers	HUES6 Cell Line	embryonic stem cell

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