Variant report

Variant	nsv975451
Chromosome Location	chr12:11420134-11463546
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	chr12:11458075-11458297	HepG2	liver:	n/a	chr12:11458153-11458164
2	CEBPB	chr12:11423258-11423283	HepG2	liver:	n/a	chr12:11423268-11423279
3	CEBPB	chr12:11457994-11458258	A549	lung:	n/a	chr12:11458153-11458164
4	CTCF	chr12:11422688-11422763	GM10248	blood:	n/a	chr12:11422749-11422757
5	CTCF	chr12:11434226-11434325	Medullo	brain:	n/a	n/a
6	CTCF	chr12:11439506-11439621	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr12:11421331-11421369	GM20000	blood:	n/a	n/a
8	CTCF	chr12:11423919-11423933	GM20000	blood:	n/a	n/a
9	CTCF	chr12:11421736-11421804	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr12:11459054-11459110	GM20000	blood:	n/a	n/a
11	CTCF	chr12:11439521-11439610	GM10248	blood:	n/a	n/a
12	CTCF	chr12:11423609-11423648	GM20000	blood:	n/a	n/a
13	E2F6	chr12:11450484-11450671	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr12:11457689-11457748	K562	blood:	n/a	n/a
15	FOS	chr12:11460127-11460404	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
16	FOS	chr12:11426502-11426755	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
17	FOS	chr12:11460090-11460325	HUVEC	blood vessel:	n/a	chr12:11460246-11460255
18	FOS	chr12:11460112-11460390	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
19	FOS	chr12:11433639-11433673	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:11426499-11426683	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
21	FOS	chr12:11426490-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
22	FOS	chr12:11426495-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
23	FOS	chr12:11433334-11433357	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:11460203-11460389	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
25	FOXA1	chr12:11443511-11443822	HepG2	liver:	n/a	n/a
26	FOXA2	chr12:11450748-11451393	A549	lung:	n/a	n/a
27	FOXA2	chr12:11443363-11443966	A549	lung:	n/a	n/a
28	FOXA2	chr12:11450956-11451176	A549	lung:	n/a	n/a
29	FOXA2	chr12:11443519-11443782	A549	lung:	n/a	n/a
30	HEY1	chr12:11443440-11443653	K562	blood:	n/a	n/a
31	JUN	chr12:11437399-11437634	HepG2	liver:	n/a	n/a
32	JUND	chr12:11437375-11437689	HepG2	liver:	n/a	n/a
33	MAFF	chr12:11433777-11433859	K562	blood:	n/a	n/a
34	MAFF	chr12:11433654-11433885	HepG2	liver:	n/a	n/a
35	MAFK	chr12:11433704-11433891	HepG2	liver:	n/a	chr12:11433769-11433789
36	MAFK	chr12:11433631-11433886	IMR90	lung:	n/a	chr12:11433769-11433789
37	MAFK	chr12:11433616-11433932	HepG2	liver:	n/a	chr12:11433769-11433789
38	MAZ	chr12:11433806-11433916	HepG2	liver:	n/a	n/a
39	MYC	chr12:11443266-11443358	MCF-7	breast:	n/a	n/a
40	NR3C1	chr12:11420257-11420959	A549	lung:	n/a	n/a
41	POLR2A	chr12:11423749-11423799	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:11460768-11460894	ProgFib	skin:	n/a	n/a
43	POLR2A	chr12:11450476-11450722	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:11437479-11437640	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:11450559-11450688	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:11426329-11426415	A549	lung:	n/a	n/a
47	POLR2A	chr12:11424831-11424900	A549	lung:	n/a	n/a
48	POLR2A	chr12:11450816-11450952	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:11437128-11437155	GM12878	blood:	n/a	n/a
50	RCOR1	chr12:11463442-11463473	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11423120-11423170	Hepatocyte	liver:	n/a
2	chr12:11423120-11423170	Hepatocyte	liver:	n/a
3	chr12:11460710-11460760	LNCaP	prostate:	n/a
4	chr12:11420895-11420945	GM12891	blood:	n/a
5	chr12:11423020-11423070	Jurkat	blood:	n/a
6	chr12:11422920-11422970	AG09309	skin:	n/a
7	chr12:11423020-11423070	SKMC	muscle:	n/a
8	chr12:11422897-11422947	Caco-2	colon:	n/a
9	chr12:11420895-11420945	AG09309	skin:	n/a
10	chr12:11422920-11422970	GM06990	blood:	n/a
11	chr12:11423120-11423170	HMEC	breast:	n/a
12	chr12:11460710-11460760	HEK293	kidney:	embryo
13	chr12:11423120-11423170	HRE	kidney:	n/a
14	chr12:11422920-11422970	MCF10A-Er-Src	breast:	n/a
15	chr12:11422920-11422970	IMR90	lung:	fetal
16	chr12:11422897-11422947	GM12878	blood:	n/a
17	chr12:11423120-11423170	GM12891	blood:	n/a
18	chr12:11423020-11423070	AG04449	skin:	fetal
19	chr12:11422897-11422947	HRE	kidney:	n/a
20	chr12:11461798-11461848	MCF10A-Er-Src	breast:	n/a
21	chr12:11423120-11423170	AG09309	skin:	n/a
22	chr12:11420895-11420945	HRPEpiC	eye:	n/a
23	chr12:11422920-11422970	ECC-1	luminal epithelium:	n/a
24	chr12:11460710-11460760	BJ	skin:	n/a
25	chr12:11423020-11423070	PFSK-1	brain:	n/a
26	chr12:11460710-11460760	AG10803	skin:	n/a
27	chr12:11420895-11420945	GM12878	blood:	n/a
28	chr12:11422920-11422970	HEEpiC	esophagus:	n/a
29	chr12:11423020-11423070	GM12878	blood:	n/a
30	chr12:11460710-11460760	HCT-116	colon:	n/a
31	chr12:11420895-11420945	CMK	blood:	n/a
32	chr12:11420895-11420945	HUVEC	blood vessel:	n/a
33	chr12:11463379-11463429	HRE	kidney:	n/a
34	chr12:11463379-11463429	HCM	heart:	n/a
35	chr12:11423020-11423070	MCF10A-Er-Src	breast:	n/a
36	chr12:11423120-11423170	HRCEpiC	kidney:	n/a
37	chr12:11460710-11460760	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:11461798-11461848	SK-N-SH	brain:	n/a
39	chr12:11423120-11423170	HIPEpiC	eye:	n/a
40	chr12:11460710-11460760	HepG2	liver:	n/a
41	chr12:11423120-11423170	MCF10A-Er-Src	breast:	n/a
42	chr12:11461798-11461848	HCPEpiC	choroid plexus:	n/a
43	chr12:11461798-11461848	Hela-S3	cervix:	n/a
44	chr12:11422920-11422970	BJ	skin:	n/a
45	chr12:11423120-11423170	GM12892	blood:	n/a
46	chr12:11420895-11420945	HepG2	liver:	n/a
47	chr12:11463379-11463429	HNPCEpiC	eye:	n/a
48	chr12:11461798-11461848	HCM	heart:	n/a
49	chr12:11461798-11461848	SKMC	muscle:	n/a
50	chr12:11461798-11461848	HepG2	liver:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935
2	lnc-PRB4-1	chr12:11463270-11463369	NONHSAT026935
3	lnc-PRB4-2	chr12:11422540-11422641	NONHSAT026934
4	lnc-PRB4-1	chr12:11462305-11462339	NONHSAT026935
5	lnc-PRB4-2	chr12:11420927-11421082	NONHSAT026934
6	lnc-PRB4-2	chr12:11421567-11421602	NONHSAT026934
7	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
8	lnc-PRB4-2	chr12:11420109-11420359	NONHSAT026934

Variant related genes	Relation type
PRB4	TF binding region
PRB3	TF binding region
PRB4	CpG island
PRB3	CpG island

Extended variants
information (count: 1094 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371518744	chr12:11420159-11420160	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs376766801	chr12:11420166-11420167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs376644658	chr12:11420172-11420173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs370037741	chr12:11420192-11420193	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200124888	chr12:11420206-11420207	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs376742029	chr12:11420207-11420208	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs369475219	chr12:11420211-11420212	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs572902782	chr12:11420224-11420225	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183766554	chr12:11420227-11420228	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373681316	chr12:11420267-11420268	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs555433073	chr12:11420274-11420275	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs375889167	chr12:11420302-11420303	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575325668	chr12:11420311-11420312	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188177633	chr12:11420314-11420315	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370093235	chr12:11420333-11420334	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs3842295	chr12:11420334-11420335	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374590900	chr12:11420337-11420338	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs369321112	chr12:11420363-11420364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200549053	chr12:11420369-11420370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201237059	chr12:11420370-11420371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs11054201	chr12:11420375-11420376	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12813034	chr12:11420381-11420382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12818734	chr12:11420386-11420387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191804141	chr12:11420387-11420388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369202988	chr12:11420391-11420392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12813039	chr12:11420395-11420396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528598166	chr12:11420400-11420401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377511579	chr12:11420421-11420422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113187893	chr12:11420437-11420438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28605625	chr12:11420444-11420445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11054202	chr12:11420454-11420455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28435564	chr12:11420458-11420459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11054203	chr12:11420484-11420485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12811806	chr12:11420495-11420496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12811811	chr12:11420501-11420502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12368171	chr12:11420517-11420518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113884749	chr12:11420521-11420522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550913655	chr12:11420524-11420525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112526960	chr12:11420526-11420527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200117404	chr12:11420534-11420535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570697251	chr12:11420535-11420536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539718896	chr12:11420538-11420539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552923329	chr12:11420547-11420548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370173277	chr12:11420558-11420559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200902635	chr12:11420563-11420564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71057716	chr12:11420579-11420580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375731986	chr12:11420580-11420581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367917023	chr12:11420582-11420583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28628341	chr12:11420584-11420585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566653052	chr12:11420587-11420588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	22522925	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD
Cancer	20164920	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11407400-11440200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:11420200-11420400	ZNF genes & repeats	Pancreas	Pancrea
3	chr12:11420400-11423000	Weak transcription	Pancreas	Pancrea
4	chr12:11422400-11422600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:11423000-11423200	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:11424400-11425000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11425000-11432400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11426200-11427000	Enhancers	HMEC	breast
9	chr12:11429800-11433800	Weak transcription	Liver	Liver
10	chr12:11430600-11433200	Weak transcription	Left Ventricle	heart
11	chr12:11431000-11431200	Active TSS	Adipose Nuclei	Adipose
12	chr12:11431000-11433200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:11431200-11433400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:11432400-11433000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:11433400-11434000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:11433400-11434200	Strong transcription	Adipose Nuclei	Adipose
17	chr12:11433800-11434000	ZNF genes & repeats	Liver	Liver
18	chr12:11434200-11434400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr12:11449800-11450600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr12:11450200-11450600	Enhancers	Stomach Mucosa	stomach
21	chr12:11450200-11450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr12:11450200-11450800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:11450200-11450800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:11450200-11450800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:11450400-11450800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:11450400-11450800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:11460200-11460800	Enhancers	HUVEC	blood vessel
28	chr12:11461200-11462200	Enhancers	Spleen	Spleen

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