Variant report

Variant	esv994917
Chromosome Location	chr12:63756415-63763744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:63762288-63762346	GM10248	blood:	n/a	n/a
2	FOS	chr12:63756686-63756835	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:63756645-63756886	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:63756646-63756895	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:63756654-63756881	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr12:63756586-63756917	MCF-7	breast:	n/a	n/a
7	GATA3	chr12:63756502-63756964	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr12:63756444-63757013	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr12:63756581-63756915	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:63757492-63757513	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:63756634-63756648	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr12:63756444-63757032	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr12:63756575-63756924	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63743207..63745868-chr12:63754623..63756737,2	K562	blood:

Variant related genes	Relation type
ENSG00000258117	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114862715	chr12:63756451-63756452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528043552	chr12:63756453-63756454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547883612	chr12:63756461-63756462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375165050	chr12:63756484-63756485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149572427	chr12:63756499-63756500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373246429	chr12:63756500-63756501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs71434008	chr12:63756526-63756527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372629386	chr12:63756542-63756543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527473444	chr12:63756543-63756544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201750943	chr12:63756545-63756546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200917336	chr12:63756546-63756547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs202031696	chr12:63756547-63756548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs3078639	chr12:63756560-63756561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567774719	chr12:63756588-63756589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34913063	chr12:63756646-63756647	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138386422	chr12:63756671-63756672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570298900	chr12:63756673-63756674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34753018	chr12:63756689-63756690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539737091	chr12:63756692-63756693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556206492	chr12:63756700-63756701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114348739	chr12:63756731-63756732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79927438	chr12:63756757-63756758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77389014	chr12:63756758-63756759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs191342279	chr12:63756776-63756777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs80167320	chr12:63756781-63756782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534672837	chr12:63756785-63756786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs78920852	chr12:63756792-63756793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs182765080	chr12:63756795-63756796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75702516	chr12:63756802-63756803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs75570801	chr12:63756806-63756807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs77616608	chr12:63756812-63756813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs77820644	chr12:63756813-63756814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs80329535	chr12:63756815-63756816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs78434623	chr12:63756828-63756829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs75536460	chr12:63756830-63756831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs75768151	chr12:63756831-63756832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568672527	chr12:63756836-63756837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs143082651	chr12:63756856-63756857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187685126	chr12:63756899-63756900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537719010	chr12:63756964-63756965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs78195850	chr12:63756965-63756966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs376928546	chr12:63757014-63757015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535747256	chr12:63757503-63757504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11174945	chr12:63759451-63759452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148958813	chr12:63759483-63759484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145676206	chr12:63759485-63759486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577566623	chr12:63759506-63759507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75027050	chr12:63759588-63759589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61934713	chr12:63759628-63759629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553791038	chr12:63759629-63759630	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Lissencephaly	21572526	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
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	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
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63759400-63759800	Enhancers	Dnd41	blood

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