Variant report

Variant	nsv558727
Chromosome Location	chr12:43021158-43024453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:43024204-43024416	K562	blood:	n/a	n/a
2	KAP1	chr12:43023782-43024522	U2OS	brain:	n/a	n/a
3	KAP1	chr12:43023607-43024511	HEK293	kidney:	n/a	n/a
4	POLR2A	chr12:43023525-43023576	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr12:43024116-43024461	K562	blood:	n/a	n/a
7	SETDB1	chr12:43023947-43024926	U2OS	brain:	n/a	n/a
8	TAL1	chr12:43024297-43024443	K562	blood:	n/a	n/a
9	TCF7L2	chr12:43023886-43024538	HEK293	kidney:	n/a	n/a
10	TEAD4	chr12:43024071-43024481	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:
2	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-1	chr12:43023263-43023488	ENSG00000257510

No data

Variant related genes	Relation type
ENSG00000257687	TF binding region
ENSG00000257405	chromatin interactions
POGZ	miRNA target sites

Extended variants
information (count: 120 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17568121	chr12:43021158-43021159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543502204	chr12:43021226-43021227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373818815	chr12:43021228-43021229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149604764	chr12:43021244-43021245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370156328	chr12:43021301-43021302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374074788	chr12:43021306-43021307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78744125	chr12:43021324-43021325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144393593	chr12:43021349-43021350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559193424	chr12:43021415-43021416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533073524	chr12:43021422-43021423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199652951	chr12:43021431-43021432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181106160	chr12:43021458-43021459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7306530	chr12:43021465-43021466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148810400	chr12:43021466-43021467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550237946	chr12:43021549-43021550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7306683	chr12:43021575-43021576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529440683	chr12:43021577-43021578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531702537	chr12:43021587-43021588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7303511	chr12:43021604-43021605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376785206	chr12:43021627-43021628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12578133	chr12:43021685-43021686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552152175	chr12:43021695-43021696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548013813	chr12:43021721-43021722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142452856	chr12:43021740-43021741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536658393	chr12:43021774-43021775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555393833	chr12:43021778-43021779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573677125	chr12:43021792-43021793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77061571	chr12:43021803-43021804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199792138	chr12:43021814-43021815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577443045	chr12:43021829-43021830	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544897985	chr12:43021839-43021840	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12229770	chr12:43021849-43021850	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576342858	chr12:43021901-43021902	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578104165	chr12:43021914-43021915	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184026557	chr12:43021926-43021927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10785362	chr12:43021935-43021936	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572819774	chr12:43021937-43021938	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147473446	chr12:43021940-43021941	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11181595	chr12:43021943-43021944	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10785363	chr12:43021970-43021971	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543472076	chr12:43021998-43021999	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145950009	chr12:43021999-43022000	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549817235	chr12:43022016-43022017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139801957	chr12:43022054-43022055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552012189	chr12:43022096-43022097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186182308	chr12:43022102-43022103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78509764	chr12:43022196-43022197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4768020	chr12:43022300-43022301	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143285172	chr12:43022329-43022330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534389677	chr12:43022393-43022394	Inactive region	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43020800-43021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:43021000-43021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach
4	chr12:43024400-43026200	Enhancers	Monocytes-CD14+_RO01746	blood

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