Variant report

Variant	esv2752525
Chromosome Location	chr12:66963804-66971398
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	chr12:66967449-66967614	Gliobla	brain:	n/a	n/a
11	POLR2A	chr12:66967575-66967655	A549	lung:	n/a	n/a
12	POLR2A	chr12:66969025-66969028	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:66968774-66968821	ProgFib	skin:	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	chr12:66965991-66966041	HCF	heart:	n/a
2	chr12:66965641-66965691	HUVEC	blood vessel:	n/a
3	chr12:66965641-66965691	HRPEpiC	eye:	n/a
4	chr12:66965991-66966041	RPTEC	kidney:	n/a
5	chr12:66965991-66966041	HNPCEpiC	eye:	n/a
6	chr12:66965991-66966041	AG04450	lung:	fetal
7	chr12:66965641-66965691	AG09319	gingival:	n/a
8	chr12:66965641-66965691	ovcar-3	ovarian:	n/a
9	chr12:66965991-66966041	AG10803	skin:	n/a
10	chr12:66965641-66965691	H1-hESC	embryonic stem cell:	embryo
11	chr12:66965991-66966041	PFSK-1	brain:	n/a
12	chr12:66965991-66966041	CMK	blood:	n/a
13	chr12:66965641-66965691	SK-N-MC	brain:	n/a
14	chr12:66965991-66966041	U87	brain:	n/a
15	chr12:66965991-66966041	Jurkat	blood:	n/a
16	chr12:66965641-66965691	SK-N-SH	brain:	n/a
17	chr12:66965991-66966041	SK-N-MC	brain:	n/a
18	chr12:66965641-66965691	NHBE	bronchial:	n/a
19	chr12:66965991-66966041	SAEC	small airway:	n/a
20	chr12:66965991-66966041	T-47D	breast:	n/a
21	chr12:66965641-66965691	MCF10A-Er-Src	breast:	n/a
22	chr12:66965991-66966041	AG09309	skin:	n/a
23	chr12:66965991-66966041	HL-60	blood:	n/a
24	chr12:66965991-66966041	HRCEpiC	kidney:	n/a
25	chr12:66965991-66966041	GM12878	blood:	n/a
26	chr12:66965641-66965691	GM12878	blood:	n/a
27	chr12:66965641-66965691	BE2_C	brain:	n/a
28	chr12:66965641-66965691	BJ	skin:	n/a
29	chr12:66965991-66966041	ECC-1	luminal epithelium:	n/a
30	chr12:66965641-66965691	SAEC	small airway:	n/a
31	chr12:66965991-66966041	NHBE	bronchial:	n/a
32	chr12:66965641-66965691	MCF-7	breast:	n/a
33	chr12:66965641-66965691	HCF	heart:	n/a
34	chr12:66965641-66965691	HCT-116	colon:	n/a
35	chr12:66965991-66966041	AG09319	gingival:	n/a
36	chr12:66965641-66965691	NHDF-neo	bronchial:	n/a
37	chr12:66965991-66966041	AG04449	skin:	fetal
38	chr12:66965641-66965691	HCPEpiC	choroid plexus:	n/a
39	chr12:66965641-66965691	NH-A	brain:	n/a
40	chr12:66965641-66965691	HIPEpiC	eye:	n/a
41	chr12:66965641-66965691	HAEpiC	amniotic membrane:	n/a
42	chr12:66965641-66965691	Caco-2	colon:	n/a
43	chr12:66965991-66966041	A549	lung:	n/a
44	chr12:66965991-66966041	HUVEC	blood vessel:	n/a
45	chr12:66965641-66965691	HEEpiC	esophagus:	n/a
46	chr12:66965991-66966041	K562	blood:	n/a
47	chr12:66965641-66965691	LNCaP	prostate:	n/a
48	chr12:66965991-66966041	AoSMC	blood vessel:	n/a
49	chr12:66965641-66965691	HRE	kidney:	n/a
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: 340 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs12321077	chr12:66963804-66963805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577688814	chr12:66963828-66963829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545064417	chr12:66963881-66963882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532213305	chr12:66963884-66963885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72245505	chr12:66963885-66963886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568013046	chr12:66963888-66963889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563236695	chr12:66963895-66963896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148474843	chr12:66963896-66963897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58598900	chr12:66963907-66963908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10878453	chr12:66963935-66963936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542419462	chr12:66963952-66963953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372200967	chr12:66963955-66963956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561152281	chr12:66963980-66963981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10878454	chr12:66963989-66963990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546469764	chr12:66964042-66964043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150579172	chr12:66964102-66964103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12307899	chr12:66964152-66964153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550606199	chr12:66964201-66964202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183359801	chr12:66964328-66964329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536759914	chr12:66964514-66964515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139983044	chr12:66964523-66964524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536979690	chr12:66964542-66964543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376680105	chr12:66964543-66964544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12321492	chr12:66964559-66964560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12321495	chr12:66964574-66964575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368576825	chr12:66964580-66964581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143510519	chr12:66964591-66964592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113119271	chr12:66964592-66964593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577660455	chr12:66964605-66964606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188602012	chr12:66964620-66964621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1532273	chr12:66964621-66964622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556928235	chr12:66964631-66964632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12321549	chr12:66964635-66964636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542729803	chr12:66964722-66964723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12309622	chr12:66964724-66964725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193166806	chr12:66964764-66964765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10878455	chr12:66964811-66964812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs183405881	chr12:66964838-66964839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73125073	chr12:66964847-66964848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532277757	chr12:66964872-66964873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188458966	chr12:66964887-66964888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562914076	chr12:66964911-66964912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530107592	chr12:66964974-66964975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12309778	chr12:66965012-66965013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566884894	chr12:66965034-66965035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534390711	chr12:66965042-66965043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10784556	chr12:66965069-66965070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571120854	chr12:66965106-66965107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146238078	chr12:66965158-66965159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576300852	chr12:66965183-66965184	Weak transcription Enhancers	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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