Variant report

Variant	esv2754064
Chromosome Location	chr12:60608389-60645117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:60644817-60645007	A549	lung:	n/a	n/a
2	CEBPB	chr12:60637395-60637433	A549	lung:	n/a	n/a
3	CEBPB	chr12:60637345-60637507	HepG2	liver:	n/a	chr12:60637394-60637405
4	CEBPB	chr12:60644861-60645657	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:60628380-60628443	GM13976	blood:	n/a	n/a
6	CTCF	chr12:60643927-60644029	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:60629632-60629658	GM10266	blood:	n/a	n/a
8	CTCF	chr12:60643901-60644010	K562	blood:	n/a	n/a
9	CUX1	chr12:60614304-60614325	K562	blood:	n/a	n/a
10	E2F4	chr12:60608645-60608868	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr12:60610712-60610965	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr12:60644873-60645258	Hela-S3	cervix:	n/a	n/a
13	EP300	chr12:60627787-60627980	K562	blood:	n/a	n/a
14	FOS	chr12:60643085-60643397	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr12:60643085-60643381	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr12:60644907-60645211	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:60613490-60614105	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:60613496-60614105	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr12:60613568-60614099	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:60613686-60614044	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:60643201-60643331	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:60643069-60643397	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:60624085-60624115	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr12:60628655-60628858	HepG2	liver:	n/a	n/a
25	FOXA1	chr12:60628691-60628900	HepG2	liver:	n/a	n/a
26	FOXA1	chr12:60628680-60628883	HepG2	liver:	n/a	n/a
27	FOXA1	chr12:60631240-60631467	A549	lung:	n/a	n/a
28	FOXA1	chr12:60628715-60628873	T-47D	breast:	n/a	n/a
29	FOXA1	chr12:60628699-60628909	HepG2	liver:	n/a	n/a
30	FOXA1	chr12:60631215-60631477	A549	lung:	n/a	n/a
31	FOXA2	chr12:60628595-60629033	A549	lung:	n/a	n/a
32	FOXA2	chr12:60628633-60629145	A549	lung:	n/a	n/a
33	FOXA2	chr12:60628700-60628901	HepG2	liver:	n/a	n/a
34	GATA3	chr12:60608871-60609410	MCF-7	breast:	n/a	n/a
35	GTF2B	chr12:60617098-60617364	K562	blood:	n/a	n/a
36	HEY1	chr12:60617092-60617461	K562	blood:	n/a	n/a
37	IRF1	chr12:60610386-60610449	K562	blood:	n/a	n/a
38	KAP1	chr12:60617495-60617778	K562	blood:	n/a	n/a
39	MAFF	chr12:60625948-60626263	K562	blood:	n/a	chr12:60626111-60626129
40	MAFF	chr12:60625977-60626269	HepG2	liver:	n/a	chr12:60626111-60626129
41	MAFK	chr12:60625945-60626301	HepG2	liver:	n/a	chr12:60626112-60626127
42	MAFK	chr12:60626074-60626185	H1-hESC	embryonic stem cell:	n/a	chr12:60626112-60626127
43	MAFK	chr12:60625954-60626275	HepG2	liver:	n/a	chr12:60626112-60626127
44	MAFK	chr12:60625981-60626265	K562	blood:	n/a	chr12:60626112-60626127
45	MAFK	chr12:60628696-60628754	HepG2	liver:	n/a	n/a
46	MAFK	chr12:60644874-60644878	HepG2	liver:	n/a	n/a
47	MAFK	chr12:60626057-60626184	Hela-S3	cervix:	n/a	chr12:60626112-60626127
48	MAFK	chr12:60625948-60626281	IMR90	lung:	n/a	chr12:60626112-60626127
49	MAX	chr12:60636123-60636405	K562	blood:	n/a	n/a
50	MYC	chr12:60636048-60636452	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:60610771..60614544-chr12:60615184..60617062,3	K562	blood:
2	chr12:60610771..60614544-chr12:60615184..60617062,3	K562	blood:
3	chr12:60602868..60604477-chr12:60621320..60623690,2	K562	blood:
4	chr12:60617591..60619683-chr12:60621297..60623226,2	MCF-7	breast:
5	chr12:60618343..60621126-chr12:60626105..60627669,2	K562	blood:
6	chr12:60610562..60614544-chr12:60614554..60617623,4	K562	blood:
7	chr12:60618343..60621126-chr12:60626105..60627669,2	K562	blood:
8	chr12:60617591..60619683-chr12:60621297..60623226,2	MCF-7	breast:
9	chr12:60644951..60647277-chr12:60691077..60693506,2	MCF-7	breast:
10	chr12:60610562..60614544-chr12:60614554..60617623,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258184	TF binding region

Extended variants
information (count: 1392 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7301616	chr12:60608389-60608390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148374667	chr12:60608415-60608416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11173367	chr12:60608416-60608417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564500471	chr12:60608419-60608420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533714433	chr12:60608440-60608441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560353034	chr12:60608442-60608443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549324616	chr12:60608479-60608480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559394997	chr12:60608547-60608548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193052386	chr12:60608658-60608659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548322460	chr12:60608666-60608667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11173368	chr12:60608717-60608718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568135383	chr12:60608718-60608719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569935977	chr12:60608724-60608725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs142191710	chr12:60608780-60608781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376711041	chr12:60608892-60608893	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs550788470	chr12:60608916-60608917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570548208	chr12:60608958-60608959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs74096934	chr12:60609005-60609006	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546528362	chr12:60609036-60609037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566534852	chr12:60609055-60609056	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11173369	chr12:60609093-60609094	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555461266	chr12:60609124-60609125	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201753534	chr12:60609142-60609143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146365337	chr12:60609161-60609162	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs537936887	chr12:60609213-60609214	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183638639	chr12:60609230-60609231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139656725	chr12:60609238-60609239	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540931316	chr12:60609272-60609273	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560733766	chr12:60609321-60609322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs572899454	chr12:60609393-60609394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116650230	chr12:60609412-60609413	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186787224	chr12:60609430-60609431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555116326	chr12:60609474-60609475	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574949020	chr12:60609519-60609520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs142868619	chr12:60609561-60609562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564306069	chr12:60609564-60609565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532940829	chr12:60609570-60609571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191257850	chr12:60609572-60609573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368022131	chr12:60609577-60609578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566400385	chr12:60609698-60609699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535341791	chr12:60609711-60609712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11173370	chr12:60609712-60609713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189499946	chr12:60609714-60609715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34306594	chr12:60609716-60609717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577162461	chr12:60609723-60609724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557930995	chr12:60609739-60609740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578134979	chr12:60609753-60609754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546212117	chr12:60609786-60609787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564903911	chr12:60609826-60609827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534102976	chr12:60609828-60609829	Weak transcription Enhancers	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:26 , 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
6	chr12:60624800-60625400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:60624800-60625400	Enhancers	Fetal Heart	heart
8	chr12:60625000-60625200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:60625000-60625200	Enhancers	K562	blood
10	chr12:60625000-60627200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:60625200-60626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:60625200-60632600	Weak transcription	K562	blood
13	chr12:60626400-60626800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:60626400-60626800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:60626800-60628200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:60627200-60628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:60628200-60628800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:60628200-60628800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:60628400-60629400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:60628600-60628800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:60628600-60629200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:60628600-60629400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:60632600-60633200	Enhancers	K562	blood
24	chr12:60633200-60635800	Weak transcription	K562	blood
25	chr12:60635800-60636800	Enhancers	K562	blood
26	chr12:60644600-60645600	Enhancers	Hela-S3	cervix

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