Variant report

Variant	esv3432749
Chromosome Location	chr12:60609285-60614083
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	E2F4	chr12:60610712-60610965	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:60613496-60614105	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:60613568-60614099	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:60613490-60614105	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:60613686-60614044	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr12:60608871-60609410	MCF-7	breast:	n/a	n/a
7	IRF1	chr12:60610386-60610449	K562	blood:	n/a	n/a
8	MYC	chr12:60613708-60614007	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr12:60613531-60614082	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:60610067-60610340	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr12:60609963-60610309	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr12:60613729-60613827	MCF10A-Er-Src	breast:	n/a	n/a
13	SIN3AK20	chr12:60608600-60609538	MCF-7	breast:	n/a	n/a
14	STAT3	chr12:60613444-60614039	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr12:60613516-60613901	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr12:60613449-60614046	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr12:60613431-60614059	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60610771..60614544-chr12:60615184..60617062,3	K562	blood:
2	chr12:60610562..60614544-chr12:60614554..60617623,4	K562	blood:

Variant related genes	Relation type
ENSG00000258184	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560733766	chr12:60609321-60609322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572899454	chr12:60609393-60609394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116650230	chr12:60609412-60609413	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186787224	chr12:60609430-60609431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555116326	chr12:60609474-60609475	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574949020	chr12:60609519-60609520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs142868619	chr12:60609561-60609562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564306069	chr12:60609564-60609565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532940829	chr12:60609570-60609571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191257850	chr12:60609572-60609573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368022131	chr12:60609577-60609578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566400385	chr12:60609698-60609699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535341791	chr12:60609711-60609712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11173370	chr12:60609712-60609713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189499946	chr12:60609714-60609715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34306594	chr12:60609716-60609717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577162461	chr12:60609723-60609724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557930995	chr12:60609739-60609740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578134979	chr12:60609753-60609754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546212117	chr12:60609786-60609787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564903911	chr12:60609826-60609827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534102976	chr12:60609828-60609829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554383383	chr12:60609853-60609854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193169501	chr12:60609869-60609870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543331085	chr12:60609998-60609999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185055234	chr12:60610004-60610005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575086147	chr12:60610043-60610044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561891361	chr12:60610045-60610046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190649246	chr12:60610049-60610050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10874	chr12:60610051-60610052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11544471	chr12:60610077-60610078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563992785	chr12:60610113-60610114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114610401	chr12:60610122-60610123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181800346	chr12:60610135-60610136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573377508	chr12:60610153-60610154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559900746	chr12:60610162-60610163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529191588	chr12:60610288-60610289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548862177	chr12:60610305-60610306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527674002	chr12:60610307-60610308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186413758	chr12:60610375-60610376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188472300	chr12:60610377-60610378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551872408	chr12:60610389-60610390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113401711	chr12:60610587-60610588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534268536	chr12:60610684-60610685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554444708	chr12:60610719-60610720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547479998	chr12:60610733-60610734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180789704	chr12:60610796-60610797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571100045	chr12:60610873-60610874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536946359	chr12:60610911-60610912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370791080	chr12:60610921-60610922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60609000-60610200	Enhancers	HUVEC	blood vessel
3	chr12:60609200-60609400	Enhancers	K562	blood
4	chr12:60610000-60610200	Enhancers	K562	blood
5	chr12:60610000-60610800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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