Variant report

Variant	nsv558719
Chromosome Location	chr12:43020633-43031988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:43025444-43025655	A549	lung:	n/a	n/a
2	CEBPB	chr12:43025322-43025688	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:43025330-43025600	K562	blood:	n/a	n/a
4	CEBPB	chr12:43025345-43025677	IMR90	lung:	n/a	n/a
5	CEBPB	chr12:43025359-43025674	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:43030904-43030941	Fibrobl	skin:	n/a	n/a
7	CTCF	chr12:43031010-43031045	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:43031000-43031007	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:43030939-43030957	GM12891	blood:	n/a	n/a
10	EP300	chr12:43024204-43024416	K562	blood:	n/a	n/a
11	EP300	chr12:43025398-43025636	Hela-S3	cervix:	n/a	n/a
12	GATA2	chr12:43031819-43032358	HUVEC	blood vessel:	n/a	n/a
13	HEY1	chr12:43030708-43031038	HepG2	liver:	n/a	n/a
14	HEY1	chr12:43030843-43031068	K562	blood:	n/a	n/a
15	HEY1	chr12:43030866-43031003	HepG2	liver:	n/a	n/a
16	KAP1	chr12:43023782-43024522	U2OS	brain:	n/a	n/a
17	KAP1	chr12:43023607-43024511	HEK293	kidney:	n/a	n/a
18	MAX	chr12:43027528-43027577	NB4	blood:	n/a	chr12:43027560-43027570
19	MAZ	chr12:43027324-43027341	HepG2	liver:	n/a	n/a
20	MYC	chr12:43030871-43030980	MCF-7	breast:	n/a	n/a
21	MYC	chr12:43030791-43030974	MCF-7	breast:	n/a	n/a
22	MYC	chr12:43030905-43030970	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:43030846-43031007	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:43030847-43031011	A549	lung:	n/a	n/a
25	POLR2A	chr12:43030887-43030981	A549	lung:	n/a	n/a
26	POLR2A	chr12:43030830-43031015	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:43030890-43030975	A549	lung:	n/a	n/a
28	POLR2A	chr12:43023525-43023576	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:43026076-43026105	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:43030694-43030964	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:43030849-43030991	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:43030881-43031017	A549	lung:	n/a	n/a
33	POLR2A	chr12:43030847-43031069	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:43030811-43031049	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:43030733-43031072	Gliobla	brain:	n/a	n/a
36	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr12:43030692-43031067	MCF-7	breast:	n/a	n/a
38	POLR2A	chr12:43030781-43030981	A549	lung:	n/a	n/a
39	POLR2A	chr12:43030888-43031010	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:43030840-43030993	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:43030741-43030987	MCF-7	breast:	n/a	n/a
42	POLR2A	chr12:43030770-43030992	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:43030738-43030985	K562	blood:	n/a	n/a
44	POLR2A	chr12:43030771-43031060	GM12892	blood:	n/a	n/a
45	POLR2A	chr12:43030878-43030991	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:43030738-43031028	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:43030722-43030980	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:43030869-43031005	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:43030794-43030962	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:43030858-43031012	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:43031029-43031079	Caco-2	colon:	n/a
2	chr12:43030949-43030999	HRPEpiC	eye:	n/a
3	chr12:43031000-43031050	HNPCEpiC	eye:	n/a
4	chr12:43030949-43030999	U87	brain:	n/a
5	chr12:43031029-43031079	AG04450	lung:	fetal
6	chr12:43031029-43031079	NHBE	bronchial:	n/a
7	chr12:43031029-43031079	IMR90	lung:	fetal
8	chr12:43031029-43031079	AG10803	skin:	n/a
9	chr12:43031029-43031079	HEK293	kidney:	embryo
10	chr12:43031000-43031050	AoSMC	blood vessel:	n/a
11	chr12:43031029-43031079	SAEC	small airway:	n/a
12	chr12:43031000-43031050	T-47D	breast:	n/a
13	chr12:43031000-43031050	Hepatocyte	liver:	n/a
14	chr12:43031000-43031050	PANC-1	pancreas:	n/a
15	chr12:43031000-43031050	H1-hESC	embryonic stem cell:	embryo
16	chr12:43030949-43030999	HAEpiC	amniotic membrane:	n/a
17	chr12:43031000-43031050	BJ	skin:	n/a
18	chr12:43031000-43031050	AG09319	gingival:	n/a
19	chr12:43031000-43031050	U87	brain:	n/a
20	chr12:43030949-43030999	MCF-7	breast:	n/a
21	chr12:43030949-43030999	LNCaP	prostate:	n/a
22	chr12:43031000-43031050	HCF	heart:	n/a
23	chr12:43031029-43031079	NHDF-neo	bronchial:	n/a
24	chr12:43031029-43031079	HNPCEpiC	eye:	n/a
25	chr12:43031029-43031079	H1-hESC	embryonic stem cell:	embryo
26	chr12:43031029-43031079	U87	brain:	n/a
27	chr12:43030949-43030999	CMK	blood:	n/a
28	chr12:43031029-43031079	HEEpiC	esophagus:	n/a
29	chr12:43031029-43031079	HAEpiC	amniotic membrane:	n/a
30	chr12:43031000-43031050	HCM	heart:	n/a
31	chr12:43031029-43031079	SKMC	muscle:	n/a
32	chr12:43031000-43031050	BE2_C	brain:	n/a
33	chr12:43031000-43031050	SKMC	muscle:	n/a
34	chr12:43030949-43030999	H1-hESC	embryonic stem cell:	embryo
35	chr12:43030949-43030999	HUVEC	blood vessel:	n/a
36	chr12:43031029-43031079	HIPEpiC	eye:	n/a
37	chr12:43031029-43031079	Jurkat	blood:	n/a
38	chr12:43031000-43031050	IMR90	lung:	fetal
39	chr12:43031029-43031079	T-47D	breast:	n/a
40	chr12:43031029-43031079	SK-N-SH_RA	brain:	n/a
41	chr12:43031029-43031079	HRE	kidney:	n/a
42	chr12:43031000-43031050	GM06990	blood:	n/a
43	chr12:43030949-43030999	HRE	kidney:	n/a
44	chr12:43030949-43030999	MCF10A-Er-Src	breast:	n/a
45	chr12:43030949-43030999	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:43030949-43030999	GM12892	blood:	n/a
47	chr12:43031000-43031050	HRCEpiC	kidney:	n/a
48	chr12:43030949-43030999	NHBE	bronchial:	n/a
49	chr12:43031029-43031079	LNCaP	prostate:	n/a
50	chr12:43031000-43031050	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:
2	chr12:42976937..42979133-chr12:43031505..43034362,2	K562	blood:
3	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:
4	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-1	chr12:43023263-43023488	ENSG00000257510
2	lnc-PRICKLE1-3	chr12:43030617-43030913	NONHSAT027786
3	lnc-PRICKLE1-1	chr12:43028083-43028203	ENSG00000257510

No data

Variant related genes	Relation type
ENSG00000257687	TF binding region
ENSG00000257405	TF binding region
ENSG00000257687	CpG island
ENSG00000257405	CpG island
ENSG00000257687	chromatin interactions
ENSG00000257405	chromatin interactions
EGLN3	miRNA target sites
POGZ	miRNA target sites

Extended variants
information (count: 442 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7313926	chr12:43020633-43020634	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139018072	chr12:43020666-43020667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538026362	chr12:43020670-43020671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79127723	chr12:43020705-43020706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113689305	chr12:43020709-43020710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536122370	chr12:43020732-43020733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143136972	chr12:43020789-43020790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17091505	chr12:43020797-43020798	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs202197719	chr12:43020805-43020806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147475403	chr12:43020812-43020813	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12322671	chr12:43020819-43020820	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373992491	chr12:43020825-43020826	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7302424	chr12:43020849-43020850	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189167570	chr12:43020856-43020857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192872508	chr12:43020857-43020858	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7131974	chr12:43020864-43020865	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs118070832	chr12:43020879-43020880	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80034683	chr12:43020889-43020890	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527632703	chr12:43020915-43020916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560956630	chr12:43020924-43020925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570576381	chr12:43020934-43020935	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531815984	chr12:43020958-43020959	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185451647	chr12:43020993-43020994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375361202	chr12:43021009-43021010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189560927	chr12:43021014-43021015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535707028	chr12:43021072-43021073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4768430	chr12:43021075-43021076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566401344	chr12:43021089-43021090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539407658	chr12:43021093-43021094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4768431	chr12:43021117-43021118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17568121	chr12:43021158-43021159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543502204	chr12:43021226-43021227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373818815	chr12:43021228-43021229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149604764	chr12:43021244-43021245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370156328	chr12:43021301-43021302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374074788	chr12:43021306-43021307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78744125	chr12:43021324-43021325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144393593	chr12:43021349-43021350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559193424	chr12:43021415-43021416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533073524	chr12:43021422-43021423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199652951	chr12:43021431-43021432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181106160	chr12:43021458-43021459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7306530	chr12:43021465-43021466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148810400	chr12:43021466-43021467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550237946	chr12:43021549-43021550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7306683	chr12:43021575-43021576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529440683	chr12:43021577-43021578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531702537	chr12:43021587-43021588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7303511	chr12:43021604-43021605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376785206	chr12:43021627-43021628	Weak transcription Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43017000-43020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:43020800-43021000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:43020800-43021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:43021000-43021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach
6	chr12:43024400-43026200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:43024800-43026000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:43025000-43026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:43025200-43025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:43025200-43026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:43025200-43026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:43025600-43026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:43025600-43029400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:43025800-43026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:43026000-43029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:43029400-43030000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:43029400-43030600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:43030000-43030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:43030200-43030400	Enhancers	Aorta	Aorta
20	chr12:43030400-43030600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:43030600-43035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:43031600-43032800	Enhancers	HUVEC	blood vessel

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