Variant report

Variant	nsv832476
Chromosome Location	chr12:86389751-86497122
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	chr12:86397242-86397397	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:86401103-86401271	HepG2	liver:	n/a	chr12:86401153-86401164
3	CEBPB	chr12:86487913-86488003	Hela-S3	cervix:	n/a	chr12:86487944-86487955 chr12:86487944-86487957 chr12:86487944-86487957
4	CEBPB	chr12:86420707-86420864	IMR90	lung:	n/a	n/a
5	CHD2	chr12:86477352-86477433	GM12878	blood:	n/a	n/a
6	CHD2	chr12:86398858-86398899	HepG2	liver:	n/a	n/a
7	CTCF	chr12:86408060-86408210	A549	lung:	n/a	n/a
8	CTCF	chr12:86398480-86398710	K562	blood:	n/a	n/a
9	CTCF	chr12:86438318-86438349	ProgFib	skin:	n/a	n/a
10	CTCF	chr12:86404680-86404830	GM06990	blood:	n/a	n/a
11	CTCF	chr12:86492220-86492370	AG09319	gingival:	n/a	n/a
12	CTCF	chr12:86478382-86478404	Medullo	brain:	n/a	n/a
13	CTCF	chr12:86432581-86432610	GM13976	blood:	n/a	n/a
14	CTCF	chr12:86488620-86488770	GM12871	blood:	n/a	n/a
15	CTCF	chr12:86438280-86438430	GM12867	blood:	n/a	n/a
16	CTCF	chr12:86431666-86431796	Spleen_OC	spleen:	n/a	n/a
17	E2F4	chr12:86496319-86496484	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr12:86410787-86410972	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr12:86463555-86463648	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr12:86494324-86494629	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:86400361-86401167	HUVEC	blood vessel:	n/a	chr12:86400755-86400766
22	FOS	chr12:86400643-86400961	MCF10A-Er-Src	breast:	n/a	chr12:86400755-86400766
23	FOS	chr12:86390055-86390425	MCF10A-Er-Src	breast:	n/a	chr12:86390228-86390239
24	FOS	chr12:86390109-86390383	MCF10A-Er-Src	breast:	n/a	chr12:86390228-86390239
25	FOS	chr12:86390031-86390459	HUVEC	blood vessel:	n/a	chr12:86390228-86390239
26	FOS	chr12:86390054-86390400	MCF10A-Er-Src	breast:	n/a	chr12:86390228-86390239
27	FOS	chr12:86390047-86390401	MCF10A-Er-Src	breast:	n/a	chr12:86390228-86390239
28	FOSL2	chr12:86390059-86390488	SK-N-SH	brain:	n/a	n/a
29	FOXA1	chr12:86446638-86446926	T-47D	breast:	n/a	chr12:86446768-86446780
30	GATA2	chr12:86400341-86400972	HUVEC	blood vessel:	n/a	n/a
31	GATA2	chr12:86390053-86390498	HUVEC	blood vessel:	n/a	n/a
32	GATA3	chr12:86390092-86390557	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr12:86422367-86422546	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr12:86444559-86444635	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr12:86488650-86488791	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr12:86441025-86441158	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr12:86394546-86394729	SH-SY5Y	brain:	n/a	n/a
38	JUN	chr12:86403242-86403360	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUN	chr12:86390050-86390449	HUVEC	blood vessel:	n/a	n/a
40	KAP1	chr12:86435902-86436222	U2OS	brain:	n/a	n/a
41	KAP1	chr12:86391866-86392198	HEK293	kidney:	n/a	n/a
42	KAP1	chr12:86435728-86436327	HEK293	kidney:	n/a	n/a
43	MAFF	chr12:86412146-86412533	HepG2	liver:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
44	MAFF	chr12:86412166-86412515	K562	blood:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
45	MAFK	chr12:86412154-86412527	IMR90	lung:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
46	MAFK	chr12:86425111-86425311	HepG2	liver:	n/a	chr12:86425189-86425200 chr12:86425189-86425205 chr12:86425188-86425202 chr12:86425189-86425204 chr12:86425151-86425166
47	MAFK	chr12:86482829-86482932	HepG2	liver:	n/a	chr12:86482890-86482901 chr12:86482890-86482901 chr12:86482885-86482900
48	MAFK	chr12:86425136-86425256	HepG2	liver:	n/a	chr12:86425189-86425200 chr12:86425189-86425205 chr12:86425188-86425202 chr12:86425189-86425204 chr12:86425151-86425166
49	MAFK	chr12:86412157-86412516	H1-hESC	embryonic stem cell:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
50	MAFK	chr12:86446666-86446707	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:
2	chr12:86398397..86398897-chr12:93280846..93281597,2	K562	blood:
3	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86405578-86405680	NONHSAT029760
2	lnc-MGAT4C-1	chr12:86443452-86443501	NONHSAT029760
3	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029759
4	lnc-MGAT4C-1	chr12:86443453-86443501	NONHSAT029762
5	lnc-NTS-2	chr12:86409475-86410219	NONHSAT029761
6	lnc-MGAT4C-1	chr12:86443452-86443501	NONHSAT029759
7	lnc-MGAT4C-1	chr12:86407459-86407536	NONHSAT029760
8	lnc-MGAT4C-1	chr12:86421882-86421982	NONHSAT029760
9	lnc-MGAT4C-1	chr12:86461869-86462285	NONHSAT029763
10	lnc-MGAT4C-1	chr12:86396130-86396256	NONHSAT029759

Variant related genes	Relation type
ENSG00000257897	TF binding region
MGAT4C	TF binding region

Extended variants
information (count: 1389 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560059318	chr12:86389868-86389869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545860435	chr12:86389878-86389879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186360360	chr12:86389893-86389894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189189610	chr12:86389951-86389952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182004177	chr12:86389962-86389963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139723474	chr12:86389994-86389995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373886343	chr12:86390030-86390031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548670008	chr12:86390060-86390061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570098743	chr12:86390108-86390109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576992190	chr12:86390109-86390110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186545424	chr12:86390135-86390136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570394093	chr12:86390163-86390164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545534814	chr12:86390164-86390165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534625659	chr12:86390176-86390177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562253215	chr12:86390181-86390182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552858212	chr12:86390191-86390192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574585778	chr12:86390216-86390217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111888507	chr12:86390224-86390225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535158770	chr12:86390260-86390261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191824630	chr12:86390270-86390271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183161849	chr12:86390294-86390295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545799580	chr12:86390314-86390315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564098925	chr12:86390404-86390405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576880162	chr12:86390414-86390415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10779225	chr12:86390417-86390418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541724611	chr12:86390428-86390429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556341010	chr12:86390495-86390496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112608557	chr12:86390508-86390509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370222051	chr12:86390530-86390531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185632092	chr12:86390533-86390534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548541702	chr12:86390554-86390555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189954485	chr12:86390568-86390569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145431626	chr12:86390619-86390620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552124773	chr12:86390653-86390654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530092350	chr12:86390661-86390662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372809429	chr12:86390675-86390676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182156382	chr12:86390691-86390692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376414555	chr12:86390762-86390763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187938024	chr12:86390781-86390782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193011413	chr12:86390808-86390809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556910726	chr12:86390869-86390870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568951040	chr12:86390888-86390889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149215407	chr12:86391007-86391008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557748949	chr12:86391019-86391020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142434408	chr12:86391029-86391030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541315374	chr12:86391032-86391033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs207473212	chr12:86391059-86391060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553621597	chr12:86391060-86391061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575065652	chr12:86391075-86391076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs150932608	chr12:86391116-86391117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86389400-86390800	Enhancers	HUVEC	blood vessel
2	chr12:86389800-86390600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:86390800-86392200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:86391000-86392000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr12:86400000-86401200	Enhancers	HUVEC	blood vessel
6	chr12:86400000-86401200	Enhancers	NHEK	skin
7	chr12:86400400-86400800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:86403000-86403400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:86403000-86403400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:86430800-86433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:86431600-86431800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:86433800-86434600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:86436200-86436400	ZNF genes & repeats	Fetal Heart	heart
14	chr12:86438000-86438400	ZNF genes & repeats	Pancreas	Pancrea
15	chr12:86438000-86439000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:86438200-86438400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:86439000-86440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:86452800-86453400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:86453400-86457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:86470600-86473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:86473800-86474000	Enhancers	Brain Germinal Matrix	brain
22	chr12:86473800-86474200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:86473800-86476400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:86473800-86476400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:86473800-86477000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:86474200-86474400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:86474200-86474600	Enhancers	Fetal Brain Male	brain
28	chr12:86474200-86474600	Enhancers	Fetal Heart	heart
29	chr12:86474200-86475400	Weak transcription	Brain Germinal Matrix	brain
30	chr12:86474400-86476400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:86474600-86475000	Weak transcription	Fetal Heart	heart
32	chr12:86474600-86475600	Weak transcription	Fetal Brain Male	brain
33	chr12:86474600-86475800	Enhancers	Brain Anterior Caudate	brain
34	chr12:86474800-86476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:86474800-86476000	Enhancers	Brain Hippocampus Middle	brain
36	chr12:86474800-86476000	Enhancers	Brain Substantia Nigra	brain
37	chr12:86475000-86476200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:86475000-86476200	Enhancers	Fetal Heart	heart
39	chr12:86475000-86476400	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:86475400-86476200	Enhancers	Fetal Brain Female	brain
41	chr12:86475400-86476400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:86475400-86476600	Enhancers	Brain Germinal Matrix	brain
43	chr12:86475600-86476200	Enhancers	Fetal Brain Male	brain
44	chr12:86476200-86477200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:86476600-86477400	Weak transcription	Brain Germinal Matrix	brain
46	chr12:86477200-86477600	Enhancers	Fetal Lung	lung
47	chr12:86477400-86477600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:86477400-86477800	Enhancers	Brain Germinal Matrix	brain
49	chr12:86484400-86486000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:86485000-86486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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