Variant report

Variant	nsv798
Chromosome Location	chr12:86399822-86447451
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	chr12:86401103-86401271	HepG2	liver:	n/a	chr12:86401153-86401164
2	CEBPB	chr12:86420707-86420864	IMR90	lung:	n/a	n/a
3	CTCF	chr12:86404680-86404830	GM06990	blood:	n/a	n/a
4	CTCF	chr12:86408060-86408210	A549	lung:	n/a	n/a
5	CTCF	chr12:86438280-86438430	GM12867	blood:	n/a	n/a
6	CTCF	chr12:86438318-86438349	ProgFib	skin:	n/a	n/a
7	CTCF	chr12:86432581-86432610	GM13976	blood:	n/a	n/a
8	CTCF	chr12:86431666-86431796	Spleen_OC	spleen:	n/a	n/a
9	E2F4	chr12:86410787-86410972	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:86400643-86400961	MCF10A-Er-Src	breast:	n/a	chr12:86400755-86400766
11	FOS	chr12:86400361-86401167	HUVEC	blood vessel:	n/a	chr12:86400755-86400766
12	FOXA1	chr12:86446638-86446926	T-47D	breast:	n/a	chr12:86446768-86446780
13	GATA2	chr12:86400341-86400972	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr12:86441025-86441158	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr12:86422367-86422546	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr12:86444559-86444635	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr12:86403242-86403360	H1-hESC	embryonic stem cell:	n/a	n/a
18	KAP1	chr12:86435902-86436222	U2OS	brain:	n/a	n/a
19	KAP1	chr12:86435728-86436327	HEK293	kidney:	n/a	n/a
20	MAFF	chr12:86412146-86412533	HepG2	liver:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
21	MAFF	chr12:86412166-86412515	K562	blood:	n/a	chr12:86412333-86412347 chr12:86412327-86412345
22	MAFK	chr12:86412168-86412522	Hela-S3	cervix:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
23	MAFK	chr12:86401732-86401783	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFK	chr12:86446666-86446707	HepG2	liver:	n/a	n/a
25	MAFK	chr12:86425111-86425311	HepG2	liver:	n/a	chr12:86425189-86425200 chr12:86425189-86425205 chr12:86425188-86425202 chr12:86425189-86425204 chr12:86425151-86425166
26	MAFK	chr12:86412163-86412516	K562	blood:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
27	MAFK	chr12:86401850-86401893	HepG2	liver:	n/a	n/a
28	MAFK	chr12:86425136-86425256	HepG2	liver:	n/a	chr12:86425189-86425200 chr12:86425189-86425205 chr12:86425188-86425202 chr12:86425189-86425204 chr12:86425151-86425166
29	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
30	MAFK	chr12:86412140-86412525	HepG2	liver:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
31	MAFK	chr12:86411960-86412629	GM12878	blood:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
32	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
33	MAFK	chr12:86412152-86412525	HepG2	liver:	n/a	chr12:86412329-86412340 chr12:86412333-86412347 chr12:86412330-86412350 chr12:86412329-86412345 chr12:86412329-86412344 chr12:86412332-86412348
34	MAX	chr12:86409101-86409131	NB4	blood:	n/a	n/a
35	MXI1	chr12:86435320-86435321	GM12878	blood:	n/a	n/a
36	MYC	chr12:86438243-86438264	MCF-7	breast:	n/a	n/a
37	MYC	chr12:86438237-86438241	MCF-7	breast:	n/a	n/a
38	MYC	chr12:86438270-86438274	MCF-7	breast:	n/a	n/a
39	MYC	chr12:86438304-86438327	MCF-7	breast:	n/a	n/a
40	MYC	chr12:86438273-86438430	MCF-7	breast:	n/a	n/a
41	MYC	chr12:86438275-86438303	MCF-7	breast:	n/a	n/a
42	NR3C1	chr12:86446976-86447299	A549	lung:	n/a	n/a
43	NRF1	chr12:86402532-86402546	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:86438185-86438376	A549	lung:	n/a	n/a
45	POLR2A	chr12:86420956-86421007	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:86401528-86401624	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:86439980-86440177	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:86438337-86438342	MCF-7	breast:	n/a	n/a
49	POLR2A	chr12:86438280-86438335	Gliobla	brain:	n/a	n/a
50	POLR2A	chr12:86415910-86415967	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:
2	chr12:86416679..86418710-chr12:86418948..86421586,2	MCF-7	breast:

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

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

Extended variants
information (count: 447 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145508800	chr12:86400002-86400003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186796523	chr12:86400014-86400015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562626129	chr12:86400062-86400063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532973190	chr12:86400118-86400119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192655925	chr12:86400173-86400174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559972430	chr12:86400181-86400182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527404519	chr12:86400202-86400203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548538041	chr12:86400207-86400208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566935322	chr12:86400229-86400230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138239509	chr12:86400312-86400313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550861645	chr12:86400316-86400317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569572284	chr12:86400323-86400324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114681711	chr12:86400338-86400339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185653466	chr12:86400346-86400347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558356385	chr12:86400373-86400374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566823121	chr12:86400421-86400422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534314460	chr12:86400427-86400428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190515380	chr12:86400448-86400449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574085448	chr12:86400464-86400465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150229051	chr12:86400493-86400494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556481633	chr12:86400509-86400510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577897619	chr12:86400514-86400515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544849139	chr12:86400520-86400521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560312644	chr12:86400562-86400563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527357928	chr12:86400581-86400582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74560959	chr12:86400592-86400593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12422652	chr12:86400601-86400602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531195735	chr12:86400623-86400624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7957022	chr12:86400658-86400659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7136221	chr12:86400751-86400752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373692461	chr12:86400754-86400755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533698921	chr12:86400772-86400773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547589115	chr12:86400798-86400799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181770341	chr12:86400826-86400827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61931067	chr12:86400842-86400843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184365827	chr12:86400845-86400846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535270801	chr12:86400858-86400859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533157639	chr12:86400894-86400895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147507982	chr12:86400927-86400928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538221753	chr12:86400954-86400955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556543995	chr12:86400990-86400991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189067484	chr12:86400997-86400998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7314272	chr12:86401005-86401006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs181417787	chr12:86401039-86401040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116361725	chr12:86401061-86401062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7311223	chr12:86401120-86401121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560632284	chr12:86401127-86401128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558494692	chr12:86403047-86403048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564433005	chr12:86403048-86403049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146726205	chr12:86403102-86403103	Enhancers	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86400000-86401200	Enhancers	HUVEC	blood vessel
2	chr12:86400000-86401200	Enhancers	NHEK	skin
3	chr12:86400400-86400800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:86403000-86403400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:86403000-86403400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:86430800-86433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:86431600-86431800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:86433800-86434600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:86436200-86436400	ZNF genes & repeats	Fetal Heart	heart
10	chr12:86438000-86438400	ZNF genes & repeats	Pancreas	Pancrea
11	chr12:86438000-86439000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:86438200-86438400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:86439000-86440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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