Variant report

Variant	esv3409268
Chromosome Location	chr12:84581533-84615274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
2	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
3	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
4	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
6	ESR1	chr12:84595787-84596035	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr12:84595767-84596126	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr12:84611278-84611590	T-47D	breast:	n/a	n/a
9	MAFF	chr12:84612850-84613001	HepG2	liver:	n/a	n/a
10	MAFK	chr12:84600298-84600486	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr12:84612801-84612954	HepG2	liver:	n/a	n/a
12	MAFK	chr12:84612864-84613038	HepG2	liver:	n/a	n/a
13	MYC	chr12:84587913-84587921	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr12:84612229-84612448	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr12:84612253-84612548	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr12:84610979-84611192	A549	lung:	n/a	n/a
17	POLR2A	chr12:84601895-84602094	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:84595036-84595132	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:84584778-84584877	ProgFib	skin:	n/a	n/a
20	POLR2A	chr12:84610506-84610535	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:84603879-84603959	MCF-7	breast:	n/a	n/a
22	POLR2A	chr12:84603829-84603933	A549	lung:	n/a	n/a
23	POLR2A	chr12:84603887-84603925	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:84611079-84611178	ProgFib	skin:	n/a	n/a
25	POLR2A	chr12:84586439-84586444	Gliobla	brain:	n/a	n/a
26	POLR2A	chr12:84588901-84589141	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:84608646-84608836	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:84607423-84607523	ProgFib	skin:	n/a	n/a
29	STAT3	chr12:84581712-84581799	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr12:84592508-84592682	MCF10A-Er-Src	breast:	n/a	chr12:84592568-84592579

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
2	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
3	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
4	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
5	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
6	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region
ENSG00000225499	chromatin interactions
ENSG00000204511	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:303 , 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	rs540779621	chr12:84581552-84581553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555891622	chr12:84581553-84581554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574133853	chr12:84581555-84581556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552999128	chr12:84581571-84581572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544838444	chr12:84581590-84581591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577972525	chr12:84581593-84581594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372592287	chr12:84581655-84581656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560728884	chr12:84581665-84581666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533489340	chr12:84581695-84581696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545660992	chr12:84581696-84581697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187368328	chr12:84581698-84581699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545439600	chr12:84581718-84581719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192947122	chr12:84581728-84581729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs118087391	chr12:84581746-84581747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78977844	chr12:84581752-84581753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368736860	chr12:84581811-84581812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7965687	chr12:84581812-84581813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370165893	chr12:84581836-84581837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184751202	chr12:84581837-84581838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542744952	chr12:84581861-84581862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138037023	chr12:84581887-84581888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35590738	chr12:84581901-84581902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373545943	chr12:84581902-84581903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386377187	chr12:84581905-84581906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3071435	chr12:84581908-84581909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538586682	chr12:84581914-84581915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554033287	chr12:84581970-84581971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371198962	chr12:84581974-84581975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566796433	chr12:84581979-84581980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534197131	chr12:84582092-84582093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555767292	chr12:84582110-84582111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141658924	chr12:84582119-84582120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544700067	chr12:84582122-84582123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556506450	chr12:84582147-84582148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578121001	chr12:84582177-84582178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545416451	chr12:84582184-84582185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573367323	chr12:84582218-84582219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187922103	chr12:84582252-84582253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150565136	chr12:84582276-84582277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540787998	chr12:84582286-84582287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193003784	chr12:84582322-84582323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560513441	chr12:84582364-84582365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531340338	chr12:84582390-84582391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139591644	chr12:84582396-84582397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564982301	chr12:84582403-84582404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377496163	chr12:84582409-84582410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562886271	chr12:84582442-84582443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565259999	chr12:84582462-84582463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373381469	chr12:84582466-84582467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547237873	chr12:84582492-84582493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:84585200-84586400	Enhancers	HMEC	breast
3	chr12:84585600-84586400	Enhancers	NHEK	skin
4	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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