Variant report

Variant	nsv522914
Chromosome Location	chr12:47846960-47867510
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	BACH1	chr12:47847542-47847598	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr12:47852087-47852389	HepG2	liver:	n/a	n/a
3	CTCF	chr12:47850376-47850422	GM20000	blood:	n/a	n/a
4	CTCF	chr12:47849967-47850003	Medullo	brain:	n/a	n/a
5	FOS	chr12:47852079-47852311	MCF10A-Er-Src	breast:	n/a	chr12:47852140-47852147 chr12:47852135-47852146 chr12:47852137-47852148 chr12:47852139-47852147 chr12:47852139-47852147
6	FOS	chr12:47852072-47852183	MCF10A-Er-Src	breast:	n/a	chr12:47852140-47852147 chr12:47852135-47852146 chr12:47852137-47852148 chr12:47852139-47852147 chr12:47852139-47852147
7	FOS	chr12:47852110-47852297	MCF10A-Er-Src	breast:	n/a	chr12:47852140-47852147 chr12:47852135-47852146 chr12:47852137-47852148 chr12:47852139-47852147 chr12:47852139-47852147
8	FOS	chr12:47852053-47852311	MCF10A-Er-Src	breast:	n/a	chr12:47852140-47852147 chr12:47852135-47852146 chr12:47852137-47852148 chr12:47852139-47852147 chr12:47852139-47852147
9	FOXA2	chr12:47852149-47852341	HepG2	liver:	n/a	n/a
10	FOXA2	chr12:47851097-47851544	A549	lung:	n/a	n/a
11	JUND	chr12:47852076-47852299	HepG2	liver:	n/a	chr12:47852140-47852147 chr12:47852135-47852146 chr12:47852137-47852148 chr12:47852139-47852147 chr12:47852139-47852147
12	POLR2A	chr12:47847193-47847252	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:47853711-47853815	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr12:47857783-47857939	K562	blood:	n/a	n/a
15	SPI1	chr12:47864260-47864430	HL-60	blood:	n/a	n/a
16	STAT3	chr12:47852053-47852200	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr12:47863535-47863708	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr12:47852111-47852269	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr12:47852112-47852234	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF143	chr12:47852236-47852279	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47862000..47863722-chr12:47865388..47867712,2	K562	blood:
2	chr12:47862000..47863722-chr12:47865388..47867712,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-9	chr12:47857112-47857404	NONHSAT027925
2	lnc-FAM113B-9	chr12:47856870-47857046	NONHSAT027925

Variant related genes	Relation type
ENSG00000258369	TF binding region

Extended variants
information (count: 467 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2158091	chr12:47846960-47846961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561039688	chr12:47846977-47846978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530249882	chr12:47847008-47847009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546792165	chr12:47847029-47847030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566927038	chr12:47847034-47847035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529508236	chr12:47847038-47847039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138137165	chr12:47847067-47847068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552503720	chr12:47847078-47847079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569490513	chr12:47847095-47847096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538127858	chr12:47847109-47847110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554776983	chr12:47847153-47847154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79176296	chr12:47847157-47847158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372905552	chr12:47847165-47847166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552798530	chr12:47847167-47847168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377127607	chr12:47847176-47847177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114619485	chr12:47847193-47847194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181536746	chr12:47847214-47847215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370800786	chr12:47847227-47847228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564897134	chr12:47847287-47847288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375495464	chr12:47847297-47847298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544499718	chr12:47847308-47847309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149752807	chr12:47847330-47847331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111672945	chr12:47847331-47847332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72279306	chr12:47847332-47847333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59402549	chr12:47847334-47847335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4277196	chr12:47847373-47847374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4567552	chr12:47847380-47847381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376026618	chr12:47847404-47847405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539528844	chr12:47847430-47847431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546726915	chr12:47847448-47847449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144062847	chr12:47847462-47847463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563004802	chr12:47847474-47847475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186284517	chr12:47847499-47847500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552336616	chr12:47847514-47847515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568896601	chr12:47847524-47847525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566450843	chr12:47847590-47847591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191011132	chr12:47847591-47847592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148738739	chr12:47847604-47847605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530429462	chr12:47847657-47847658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568369009	chr12:47847682-47847683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370816121	chr12:47847692-47847693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534131979	chr12:47847705-47847706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181783328	chr12:47847743-47847744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187183729	chr12:47847758-47847759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141488192	chr12:47847824-47847825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558306178	chr12:47847839-47847840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147455827	chr12:47847876-47847877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190915200	chr12:47847880-47847881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200824364	chr12:47847884-47847885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182627359	chr12:47847885-47847886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47842800-47851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47851600-47852400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:47851800-47853600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47852000-47852600	Enhancers	HepG2	liver
5	chr12:47852000-47852600	Enhancers	HMEC	breast
6	chr12:47852200-47852400	Enhancers	Hela-S3	cervix
7	chr12:47865000-47866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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