Variant report

Variant	esv3497363
Chromosome Location	chr12:74677995-74679907
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	CEBPB	chr12:74679616-74679818	A549	lung:	n/a	n/a
2	EP300	chr12:74679573-74679634	K562	blood:	n/a	n/a
3	FOS	chr12:74679572-74679913	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:74679624-74679824	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:74679493-74679971	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:74679584-74679855	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr12:74679555-74679877	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:74679445-74680609	K562	blood:	n/a	n/a
9	STAT3	chr12:74679528-74679959	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr12:74679596-74679836	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:74679458-74679900	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr12:74679615-74680034	ECC-1	luminal epithelium:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-2	chr12:74678816-74678873	ENSG00000251138
2	lnc-KCNC2-2	chr12:74679640-74679726	ENSG00000251138
3	lnc-KCNC2-2	chr12:74679478-74679726	ENSG00000251138

Variant related genes	Relation type
ENSG00000257183	TF binding region
DYNLL2	miRNA target sites
RRAS	miRNA target sites
DNMT1	miRNA target sites

Extended variants
information (count: 84 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373677381	chr12:74678001-74678002	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185608765	chr12:74678022-74678023	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148271802	chr12:74678025-74678026	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564616444	chr12:74678068-74678069	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530551390	chr12:74678115-74678116	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543458713	chr12:74678133-74678134	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544183325	chr12:74678168-74678169	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558047162	chr12:74678170-74678171	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529951005	chr12:74678188-74678189	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546595642	chr12:74678196-74678197	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528695939	chr12:74678214-74678215	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141171277	chr12:74678234-74678235	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532327404	chr12:74678248-74678249	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548348497	chr12:74678342-74678343	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188804055	chr12:74678356-74678357	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569364809	chr12:74678393-74678394	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs66514235	chr12:74678407-74678408	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548517764	chr12:74678408-74678409	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568372682	chr12:74678415-74678416	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534470188	chr12:74678428-74678429	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562421374	chr12:74678439-74678440	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386764286	chr12:74678441-74678442	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554065325	chr12:74678442-74678443	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577145048	chr12:74678443-74678444	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539629983	chr12:74678445-74678446	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556377644	chr12:74678493-74678494	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75548398	chr12:74678508-74678509	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150707639	chr12:74678510-74678511	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137983382	chr12:74678596-74678597	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112931987	chr12:74678612-74678613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550324678	chr12:74678615-74678616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574373499	chr12:74678661-74678662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540260797	chr12:74678666-74678667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73351780	chr12:74678678-74678679	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532488770	chr12:74678698-74678699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570391503	chr12:74678734-74678735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142423752	chr12:74678749-74678750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146368702	chr12:74678758-74678759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531792142	chr12:74678768-74678769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548410758	chr12:74678833-74678834	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs571410032	chr12:74678847-74678848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs533916794	chr12:74678936-74678937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139725371	chr12:74678953-74678954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570801127	chr12:74678985-74678986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144382966	chr12:74679013-74679014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117229360	chr12:74679020-74679021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576568647	chr12:74679034-74679035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1554486	chr12:74679054-74679055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs144416173	chr12:74679173-74679174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574510168	chr12:74679185-74679186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood
2	chr12:74676000-74679000	Weak transcription	HMEC	breast
3	chr12:74676200-74679200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:74678000-74678600	Genic enhancers	K562	blood
5	chr12:74678600-74678800	Strong transcription	K562	blood
6	chr12:74678800-74679400	Weak transcription	K562	blood
7	chr12:74679000-74679200	Enhancers	HMEC	breast
8	chr12:74679000-74679400	Enhancers	Placenta	Placenta
9	chr12:74679200-74679600	Weak transcription	HMEC	breast
10	chr12:74679200-74680000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:74679200-74680000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:74679200-74681400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:74679400-74680400	Enhancers	K562	blood
14	chr12:74679600-74680200	Enhancers	HMEC	breast
15	chr12:74679800-74680200	Enhancers	NHEK	skin

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