Variant report

Variant	nsv437725
Chromosome Location	chr12:11501856-11547493
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	chr12:11538413-11538520	HepG2	liver:	n/a	chr12:11538466-11538477 chr12:11538464-11538475
2	CEBPB	chr12:11514261-11514433	Hela-S3	cervix:	n/a	chr12:11514316-11514325
3	CEBPB	chr12:11538442-11538474	A549	lung:	n/a	n/a
4	CREB1	chr12:11501156-11501972	K562	blood:	n/a	n/a
5	CTCF	chr12:11545806-11545841	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:11545750-11545873	GM13977	blood:	n/a	n/a
7	CTCF	chr12:11506021-11506166	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:11524600-11524750	GM12865	blood:	n/a	n/a
9	CTCF	chr12:11531414-11531456	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr12:11545778-11545816	GM12891	blood:	n/a	n/a
11	CTCF	chr12:11505978-11506004	Lung_OC	lung:	n/a	n/a
12	CTCF	chr12:11505990-11506144	K562	blood:	n/a	n/a
13	CTCF	chr12:11529002-11529034	GM10266	blood:	n/a	n/a
14	CTCF	chr12:11506052-11506137	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:11545746-11545856	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:11528342-11528385	LNCaP	prostate:	n/a	n/a
17	CTCF	chr12:11545775-11545832	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:11545671-11545700	GM10266	blood:	n/a	n/a
19	CTCF	chr12:11505592-11505641	GM20000	blood:	n/a	n/a
20	CTCF	chr12:11544846-11544963	GM13976	blood:	n/a	n/a
21	CTCF	chr12:11506054-11506114	GM10266	blood:	n/a	n/a
22	CTCF	chr12:11527332-11527390	GM13976	blood:	n/a	n/a
23	CTCF	chr12:11545730-11545872	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr12:11508581-11508633	GM13976	blood:	n/a	n/a
25	CTCF	chr12:11506036-11506126	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:11506136-11506201	GM20000	blood:	n/a	n/a
27	E2F4	chr12:11542959-11542990	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr12:11504646-11504964	HUVEC	blood vessel:	n/a	n/a
29	FOS	chr12:11513136-11513561	MCF10A-Er-Src	breast:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360 chr12:11513349-11513360
30	FOS	chr12:11544489-11544699	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:11538676-11538692	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:11544409-11544699	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr12:11513116-11513579	MCF10A-Er-Src	breast:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360 chr12:11513349-11513360
34	FOS	chr12:11513152-11513541	MCF10A-Er-Src	breast:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360 chr12:11513349-11513360
35	FOS	chr12:11513175-11513539	HUVEC	blood vessel:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360 chr12:11513349-11513360
36	FOS	chr12:11544405-11544693	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr12:11513145-11513524	MCF10A-Er-Src	breast:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360 chr12:11513349-11513360
38	FOSL1	chr12:11513158-11513604	HCT-116	colon:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360
39	FOSL1	chr12:11513141-11513488	HCT-116	colon:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360
40	FOSL2	chr12:11513095-11513514	SK-N-SH	brain:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360
41	GABPA	chr12:11546110-11546229	HepG2	liver:	n/a	n/a
42	GABPA	chr12:11546703-11546821	HepG2	liver:	n/a	n/a
43	GABPA	chr12:11545924-11546054	HepG2	liver:	n/a	n/a
44	JUN	chr12:11513177-11513519	HUVEC	blood vessel:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360
45	JUN	chr12:11513289-11513512	HepG2	liver:	n/a	chr12:11513350-11513360 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513351-11513360
46	JUND	chr12:11513226-11513474	HepG2	liver:	n/a	chr12:11513350-11513360 chr12:11513338-11513349 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513349-11513360 chr12:11513351-11513360
47	JUND	chr12:11513225-11513532	Hela-S3	cervix:	n/a	chr12:11513350-11513360 chr12:11513338-11513349 chr12:11513351-11513358 chr12:11513350-11513360 chr12:11513349-11513360 chr12:11513351-11513360
48	MAFF	chr12:11527187-11527277	HepG2	liver:	n/a	n/a
49	MAFK	chr12:11515921-11515938	HepG2	liver:	n/a	n/a
50	MAFK	chr12:11527160-11527408	HepG2	liver:	n/a	chr12:11527245-11527265

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11509583-11509633	AG04449	skin:	fetal
2	chr12:11509583-11509633	AG04450	lung:	fetal
3	chr12:11508049-11508099	AG09309	skin:	n/a
4	chr12:11508049-11508099	NHDF-neo	bronchial:	n/a
5	chr12:11509583-11509633	AG09309	skin:	n/a
6	chr12:11508049-11508099	HCT-116	colon:	n/a
7	chr12:11508049-11508099	AG04449	skin:	fetal
8	chr12:11508049-11508099	AG09319	gingival:	n/a
9	chr12:11509583-11509633	HCPEpiC	choroid plexus:	n/a
10	chr12:11508049-11508099	SK-N-MC	brain:	n/a
11	chr12:11509583-11509633	PFSK-1	brain:	n/a
12	chr12:11508049-11508099	HEEpiC	esophagus:	n/a
13	chr12:11509583-11509633	HIPEpiC	eye:	n/a
14	chr12:11508049-11508099	Hepatocyte	liver:	n/a
15	chr12:11509583-11509633	ECC-1	luminal epithelium:	n/a
16	chr12:11509583-11509633	IMR90	lung:	fetal
17	chr12:11509583-11509633	HEEpiC	esophagus:	n/a
18	chr12:11508049-11508099	RPTEC	kidney:	n/a
19	chr12:11509583-11509633	CMK	blood:	n/a
20	chr12:11508049-11508099	HAEpiC	amniotic membrane:	n/a
21	chr12:11508049-11508099	ProgFib	skin:	n/a
22	chr12:11508049-11508099	HL-60	blood:	n/a
23	chr12:11508049-11508099	HIPEpiC	eye:	n/a
24	chr12:11508049-11508099	GM06990	blood:	n/a
25	chr12:11508049-11508099	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:11509583-11509633	HRPEpiC	eye:	n/a
27	chr12:11509583-11509633	HEK293	kidney:	embryo
28	chr12:11508049-11508099	AG10803	skin:	n/a
29	chr12:11509583-11509633	MCF-7	breast:	n/a
30	chr12:11508049-11508099	AoSMC	blood vessel:	n/a
31	chr12:11509583-11509633	K562	blood:	n/a
32	chr12:11508049-11508099	HUVEC	blood vessel:	n/a
33	chr12:11508049-11508099	HepG2	liver:	n/a
34	chr12:11509583-11509633	H1-hESC	embryonic stem cell:	embryo
35	chr12:11508049-11508099	NT2-D1	testis:	n/a
36	chr12:11508049-11508099	SAEC	small airway:	n/a
37	chr12:11508049-11508099	BJ	skin:	n/a
38	chr12:11509583-11509633	Caco-2	colon:	n/a
39	chr12:11508049-11508099	Hela-S3	cervix:	n/a
40	chr12:11509583-11509633	GM19239	blood:	n/a
41	chr12:11508049-11508099	NH-A	brain:	n/a
42	chr12:11509583-11509633	A549	lung:	n/a
43	chr12:11509583-11509633	NHBE	bronchial:	n/a
44	chr12:11509583-11509633	HRE	kidney:	n/a
45	chr12:11508049-11508099	T-47D	breast:	n/a
46	chr12:11508049-11508099	H1-hESC	embryonic stem cell:	embryo
47	chr12:11509583-11509633	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:11508049-11508099	GM12891	blood:	n/a
49	chr12:11509583-11509633	GM12892	blood:	n/a
50	chr12:11508049-11508099	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:

Variant related genes	Relation type
PRB1	TF binding region
PRB1	CpG island

Extended variants
information (count: 1454 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1454 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573089677	chr12:11504013-11504014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541717681	chr12:11504016-11504017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11836635	chr12:11504044-11504045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530590168	chr12:11504068-11504069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371382347	chr12:11504074-11504075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11612323	chr12:11504091-11504092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141060377	chr12:11504097-11504098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555048269	chr12:11504100-11504101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532997361	chr12:11504122-11504123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546613427	chr12:11504124-11504125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566296063	chr12:11504141-11504142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2416556	chr12:11504167-11504168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548569229	chr12:11504174-11504175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568661757	chr12:11504267-11504268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374516099	chr12:11504276-11504277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557068661	chr12:11504279-11504280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377307645	chr12:11504282-11504283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539495859	chr12:11504287-11504288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144572980	chr12:11504309-11504310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10772451	chr12:11504330-11504331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116895189	chr12:11504346-11504347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561811755	chr12:11504368-11504369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192597161	chr12:11504375-11504376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564908780	chr12:11504376-11504377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112522723	chr12:11504405-11504406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547446197	chr12:11504421-11504422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2416557	chr12:11504425-11504426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113615594	chr12:11504434-11504435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533060930	chr12:11504437-11504438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112499228	chr12:11504448-11504449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113678218	chr12:11504470-11504471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560111980	chr12:11504493-11504494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370553680	chr12:11504510-11504511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531908700	chr12:11504527-11504528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11054265	chr12:11504539-11504540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562642901	chr12:11504558-11504559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548104014	chr12:11504559-11504560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369680699	chr12:11504564-11504565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386760381	chr12:11504565-11504566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568645635	chr12:11504581-11504582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142882443	chr12:11504657-11504658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550759578	chr12:11504664-11504665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10772452	chr12:11504729-11504730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183317251	chr12:11504736-11504737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140334146	chr12:11504755-11504756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1863845	chr12:11504764-11504765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566886402	chr12:11504777-11504778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1863846	chr12:11504782-11504783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1863847	chr12:11504783-11504784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574095451	chr12:11504806-11504807	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11504000-11505000	Enhancers	HUVEC	blood vessel
2	chr12:11505000-11510400	Weak transcription	HUVEC	blood vessel
3	chr12:11506600-11507000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:11510000-11511000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:11510000-11511200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:11510400-11511000	Enhancers	HUVEC	blood vessel
7	chr12:11511000-11512400	Weak transcription	HUVEC	blood vessel
8	chr12:11511200-11519600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:11512400-11514000	Enhancers	HUVEC	blood vessel
10	chr12:11513000-11513800	Enhancers	HMEC	breast
11	chr12:11513000-11514000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:11513000-11514000	Enhancers	NHEK	skin
13	chr12:11513400-11513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:11513600-11514200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:11513600-11521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:11516600-11517000	Enhancers	HepG2	liver
17	chr12:11519600-11520200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:11520000-11520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:11520200-11521200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:11521200-11521800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:11521400-11521600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:11529600-11529800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:11530200-11531200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:11539200-11539400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11539400-11539800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:11544000-11544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:11544000-11544800	Enhancers	HUVEC	blood vessel
28	chr12:11544800-11550000	Weak transcription	HUVEC	blood vessel
29	chr12:11544800-11550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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