Variant report

Variant	nsv973113
Chromosome Location	chr12:104421941-104426122
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	chr12:104425676-104425762	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr12:104424604-104424640	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr12:104425481-104425555	GM13977	blood:	n/a	n/a
4	CTCF	chr12:104425377-104425439	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:104425526-104425625	GM10248	blood:	n/a	n/a
6	EP300	chr12:104425896-104426161	GM12878	blood:	n/a	n/a
7	FOSL2	chr12:104425880-104426244	HepG2	liver:	n/a	n/a
8	FOSL2	chr12:104425256-104425836	HepG2	liver:	n/a	n/a
9	FOXA1	chr12:104425399-104425732	HepG2	liver:	n/a	n/a
10	HEY1	chr12:104424444-104424790	K562	blood:	n/a	n/a
11	HEY1	chr12:104424434-104424705	HepG2	liver:	n/a	n/a
12	HEY1	chr12:104424424-104424821	HepG2	liver:	n/a	n/a
13	HEY1	chr12:104425319-104426280	HepG2	liver:	n/a	n/a
14	HEY1	chr12:104424443-104424788	K562	blood:	n/a	n/a
15	HEY1	chr12:104424882-104425490	K562	blood:	n/a	n/a
16	JUND	chr12:104424416-104424699	HepG2	liver:	n/a	n/a
17	JUND	chr12:104425580-104425849	HepG2	liver:	n/a	n/a
18	JUND	chr12:104424474-104424618	HepG2	liver:	n/a	n/a
19	MAFK	chr12:104421712-104421965	HepG2	liver:	n/a	chr12:104421809-104421819 chr12:104421809-104421818 chr12:104421805-104421825 chr12:104421803-104421817 chr12:104421804-104421819 chr12:104421805-104421816 chr12:104421808-104421822 chr12:104421807-104421823
20	PAX5	chr12:104424466-104424730	GM12878	blood:	n/a	n/a
21	PAX5	chr12:104424399-104424839	GM12878	blood:	n/a	n/a
22	PBX3	chr12:104424500-104424780	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:104425626-104425812	A549	lung:	n/a	n/a
24	POLR2A	chr12:104424463-104424690	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:104424416-104424821	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:104425906-104426231	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:104425596-104425837	A549	lung:	n/a	n/a
28	POLR2A	chr12:104425908-104426203	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:104424437-104424779	GM12891	blood:	n/a	n/a
30	POLR2A	chr12:104424452-104424730	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:104425958-104426315	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:104424509-104424751	Gliobla	brain:	n/a	n/a
33	POLR2A	chr12:104424427-104424785	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr12:104424511-104424553	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:104425011-104426290	GM12892	blood:	n/a	n/a
36	POLR2A	chr12:104425294-104425845	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:104425563-104425838	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:104424469-104424730	A549	lung:	n/a	n/a
39	POLR2A	chr12:104424276-104426317	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:104425497-104426294	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr12:104424509-104424561	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:104424517-104424549	A549	lung:	n/a	n/a
43	POLR2A	chr12:104424357-104424931	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr12:104425950-104426236	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:104425947-104426234	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr12:104424470-104424721	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:104424417-104424660	HepG2	liver:	n/a	n/a
48	POLR2A	chr12:104424440-104425873	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:104425608-104425844	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:104424436-104424911	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
GLT8D2	TF binding region
ENSG00000216285	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560251729	chr12:104422003-104422004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140492364	chr12:104422010-104422011	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545789455	chr12:104422012-104422013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147867585	chr12:104422057-104422058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563191541	chr12:104422060-104422061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376582705	chr12:104422076-104422077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200991626	chr12:104422089-104422090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555677833	chr12:104422108-104422109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532027861	chr12:104422199-104422200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs118014290	chr12:104422218-104422219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143682744	chr12:104422230-104422231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77142627	chr12:104422237-104422238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370654503	chr12:104422291-104422292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113908731	chr12:104422300-104422301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570563578	chr12:104422306-104422307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2723868	chr12:104422317-104422318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556101523	chr12:104422328-104422329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568844366	chr12:104422345-104422346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544784353	chr12:104422379-104422380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2583266	chr12:104422405-104422406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538118430	chr12:104422430-104422431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182212034	chr12:104422446-104422447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1185581	chr12:104422504-104422505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574587170	chr12:104422529-104422530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148111594	chr12:104422540-104422541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563081528	chr12:104422547-104422548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574213464	chr12:104422576-104422577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141872979	chr12:104422633-104422634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150220724	chr12:104422643-104422644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562445637	chr12:104422675-104422676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370832532	chr12:104422728-104422729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544374122	chr12:104422733-104422734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531959835	chr12:104422751-104422752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542500668	chr12:104422784-104422785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112575648	chr12:104422790-104422791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527887633	chr12:104422801-104422802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542246512	chr12:104422865-104422866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138304799	chr12:104422899-104422900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533234887	chr12:104422904-104422905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549790291	chr12:104422937-104422938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569709790	chr12:104422948-104422949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186077361	chr12:104422961-104422962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548469683	chr12:104423013-104423014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547943234	chr12:104423016-104423017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143229025	chr12:104423017-104423018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534008975	chr12:104423057-104423058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559696310	chr12:104423066-104423067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148274068	chr12:104423076-104423077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147532617	chr12:104423202-104423203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189756265	chr12:104423204-104423205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104408800-104428000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:104415200-104435200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104420000-104435200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:104421000-104422200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:104421200-104422000	Enhancers	Ovary	ovary
7	chr12:104421200-104435200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:104421600-104422000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104421600-104422000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:104421800-104422200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:104422000-104422800	Weak transcription	Ovary	ovary
12	chr12:104424800-104438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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