Variant report

Variant	nsv442275
Chromosome Location	chr12:66963300-66971024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:66968471-66968686	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr12:66967474-66967727	GM12878	blood:	n/a	n/a
3	FOS	chr12:66970593-66970661	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr12:66966704-66966912	HepG2	liver:	n/a	n/a
5	MAFK	chr12:66966702-66966926	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr12:66966668-66966974	HepG2	liver:	n/a	n/a
7	MAFK	chr12:66966732-66966966	HepG2	liver:	n/a	n/a
8	MAFK	chr12:66966641-66967001	IMR90	lung:	n/a	n/a
9	NFYB	chr12:66970452-66970488	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:66968774-66968821	ProgFib	skin:	n/a	n/a
11	POLR2A	chr12:66967449-66967614	Gliobla	brain:	n/a	n/a
12	POLR2A	chr12:66967575-66967655	A549	lung:	n/a	n/a
13	POLR2A	chr12:66969025-66969028	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr12:66969915-66970072	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr12:66967448-66967688	GM12878	blood:	n/a	n/a
16	TCF3	chr12:66967405-66967688	GM12878	blood:	n/a	chr12:66967603-66967612 chr12:66967517-66967526 chr12:66967600-66967615 chr12:66967514-66967529 chr12:66967600-66967616

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:66965641-66965691	PrEC	prostate:	n/a
2	chr12:66965641-66965691	HUVEC	blood vessel:	n/a
3	chr12:66965641-66965691	AG09309	skin:	n/a
4	chr12:66965991-66966041	AoSMC	blood vessel:	n/a
5	chr12:66965991-66966041	HUVEC	blood vessel:	n/a
6	chr12:66965991-66966041	GM12891	blood:	n/a
7	chr12:66965641-66965691	GM19239	blood:	n/a
8	chr12:66965991-66966041	SKMC	muscle:	n/a
9	chr12:66965991-66966041	PrEC	prostate:	n/a
10	chr12:66965991-66966041	HCPEpiC	choroid plexus:	n/a
11	chr12:66965991-66966041	BJ	skin:	n/a
12	chr12:66965991-66966041	AG04449	skin:	fetal
13	chr12:66965641-66965691	GM12891	blood:	n/a
14	chr12:66965641-66965691	HRPEpiC	eye:	n/a
15	chr12:66965641-66965691	PFSK-1	brain:	n/a
16	chr12:66965991-66966041	K562	blood:	n/a
17	chr12:66965641-66965691	SK-N-SH_RA	brain:	n/a
18	chr12:66965991-66966041	BE2_C	brain:	n/a
19	chr12:66965641-66965691	HEEpiC	esophagus:	n/a
20	chr12:66965991-66966041	PFSK-1	brain:	n/a
21	chr12:66965641-66965691	LNCaP	prostate:	n/a
22	chr12:66965991-66966041	GM12878	blood:	n/a
23	chr12:66965991-66966041	HCT-116	colon:	n/a
24	chr12:66965991-66966041	A549	lung:	n/a
25	chr12:66965641-66965691	MCF10A-Er-Src	breast:	n/a
26	chr12:66965991-66966041	AG10803	skin:	n/a
27	chr12:66965991-66966041	HL-60	blood:	n/a
28	chr12:66965991-66966041	SK-N-MC	brain:	n/a
29	chr12:66965641-66965691	HL-60	blood:	n/a
30	chr12:66965641-66965691	HEK293	kidney:	embryo
31	chr12:66965991-66966041	PANC-1	pancreas:	n/a
32	chr12:66965991-66966041	SK-N-SH	brain:	n/a
33	chr12:66965641-66965691	T-47D	breast:	n/a
34	chr12:66965641-66965691	Jurkat	blood:	n/a
35	chr12:66965991-66966041	SAEC	small airway:	n/a
36	chr12:66965641-66965691	CMK	blood:	n/a
37	chr12:66965991-66966041	MCF10A-Er-Src	breast:	n/a
38	chr12:66965641-66965691	HCF	heart:	n/a
39	chr12:66965991-66966041	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:66965991-66966041	NT2-D1	testis:	n/a
41	chr12:66965641-66965691	ECC-1	luminal epithelium:	n/a
42	chr12:66965991-66966041	GM12892	blood:	n/a
43	chr12:66965991-66966041	SK-N-SH_RA	brain:	n/a
44	chr12:66965991-66966041	Hela-S3	cervix:	n/a
45	chr12:66965991-66966041	U87	brain:	n/a
46	chr12:66965991-66966041	NHBE	bronchial:	n/a
47	chr12:66965991-66966041	HMEC	breast:	n/a
48	chr12:66965641-66965691	Caco-2	colon:	n/a
49	chr12:66965991-66966041	H1-hESC	embryonic stem cell:	embryo
50	chr12:66965991-66966041	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
GRIP1	TF binding region
OSBPL9P4	TF binding region
GRIP1	CpG island
OSBPL9P4	CpG island

Extended variants
information (count: 341 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181478141	chr12:66963336-66963337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111568550	chr12:66963352-66963353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186593347	chr12:66963370-66963371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12313212	chr12:66963373-66963374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559397508	chr12:66963394-66963395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191138719	chr12:66963404-66963405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182295973	chr12:66963413-66963414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563409118	chr12:66963481-66963482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185022653	chr12:66963498-66963499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549210809	chr12:66963533-66963534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551578923	chr12:66963581-66963582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528396534	chr12:66963588-66963589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137863402	chr12:66963633-66963634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12319603	chr12:66963645-66963646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189582193	chr12:66963658-66963659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557019402	chr12:66963678-66963679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569373451	chr12:66963687-66963688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536444441	chr12:66963734-66963735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114858604	chr12:66963752-66963753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73323155	chr12:66963769-66963770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141632800	chr12:66963795-66963796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12321077	chr12:66963804-66963805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577688814	chr12:66963828-66963829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545064417	chr12:66963881-66963882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532213305	chr12:66963884-66963885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72245505	chr12:66963885-66963886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568013046	chr12:66963888-66963889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563236695	chr12:66963895-66963896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148474843	chr12:66963896-66963897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58598900	chr12:66963907-66963908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10878453	chr12:66963935-66963936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542419462	chr12:66963952-66963953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372200967	chr12:66963955-66963956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561152281	chr12:66963980-66963981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10878454	chr12:66963989-66963990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546469764	chr12:66964042-66964043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150579172	chr12:66964102-66964103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12307899	chr12:66964152-66964153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550606199	chr12:66964201-66964202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183359801	chr12:66964328-66964329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536759914	chr12:66964514-66964515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139983044	chr12:66964523-66964524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536979690	chr12:66964542-66964543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376680105	chr12:66964543-66964544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12321492	chr12:66964559-66964560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12321495	chr12:66964574-66964575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368576825	chr12:66964580-66964581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143510519	chr12:66964591-66964592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113119271	chr12:66964592-66964593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577660455	chr12:66964605-66964606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Lung cancer	18438408	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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66962600-66964000	Weak transcription	Fetal Brain Female	brain
2	chr12:66962800-66981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:66964800-66965800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:66965000-66965800	Enhancers	Brain Angular Gyrus	brain

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