Variant report

Variant	nsv559690
Chromosome Location	chr12:86929340-87020377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:87004120-87004441	Hela-S3	cervix:	n/a	chr12:87004269-87004280 chr12:87004269-87004282
2	CEBPB	chr12:86978450-86978649	A549	lung:	n/a	n/a
3	CEBPB	chr12:87004119-87004420	HepG2	liver:	n/a	chr12:87004269-87004280 chr12:87004269-87004282
4	CEBPB	chr12:87004145-87004345	H1-hESC	embryonic stem cell:	n/a	chr12:87004269-87004280 chr12:87004269-87004282
5	CEBPB	chr12:87007174-87007477	HepG2	liver:	n/a	chr12:87007313-87007324
6	CEBPB	chr12:87007136-87007499	ECC-1	luminal epithelium:	n/a	chr12:87007313-87007324
7	CEBPB	chr12:87007152-87007478	IMR90	lung:	n/a	chr12:87007313-87007324
8	CEBPB	chr12:87007056-87007537	Hela-S3	cervix:	n/a	chr12:87007313-87007324
9	CEBPB	chr12:87004112-87004399	IMR90	lung:	n/a	chr12:87004269-87004280 chr12:87004269-87004282
10	CEBPB	chr12:87004130-87004403	A549	lung:	n/a	chr12:87004269-87004280 chr12:87004269-87004282
11	CEBPB	chr12:87007164-87007459	A549	lung:	n/a	chr12:87007313-87007324
12	CEBPB	chr12:86969245-86969329	HepG2	liver:	n/a	chr12:86969264-86969275
13	CEBPB	chr12:86951563-86951595	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr12:86969097-86969442	A549	lung:	n/a	chr12:86969264-86969275
15	CEBPB	chr12:87009163-87009278	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr12:87007085-87007413	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr12:86971800-86971950	NHEK	skin:	n/a	n/a
18	CTCF	chr12:87006492-87006547	GM13976	blood:	n/a	n/a
19	CTCF	chr12:86961884-86961951	GM10266	blood:	n/a	n/a
20	CTCF	chr12:86960736-86960790	Lung_OC	lung:	n/a	n/a
21	CTCF	chr12:86948655-86948775	GM12878	blood:	n/a	n/a
22	CTCF	chr12:86957762-86957836	GM20000	blood:	n/a	n/a
23	CTCF	chr12:87012823-87012917	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr12:86945000-86945150	BE2_C	brain:	n/a	n/a
25	CTCF	chr12:86995926-86996080	LNCaP	prostate:	n/a	n/a
26	CTCF	chr12:86944840-86944990	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr12:86948738-86948791	LNCaP	prostate:	n/a	n/a
28	CTCF	chr12:86944920-86945070	BE2_C	brain:	n/a	n/a
29	CTCF	chr12:86995930-86996042	LNCaP	prostate:	n/a	n/a
30	CTCF	chr12:86944900-86945050	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:86944920-86945070	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr12:87014560-87014710	GM12871	blood:	n/a	n/a
33	CTCF	chr12:86948742-86948761	GM10248	blood:	n/a	n/a
34	CTCF	chr12:87003396-87003442	GM20000	blood:	n/a	n/a
35	CTCF	chr12:86956120-86956270	GM12875	blood:	n/a	n/a
36	CTCF	chr12:86941540-86941690	AG10803	skin:	n/a	n/a
37	E2F4	chr12:86936623-86936833	MCF10A-Er-Src	breast:	n/a	chr12:86936708-86936717
38	E2F4	chr12:87007216-87007532	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr12:86971373-86971623	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr12:86986957-86987149	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr12:86993021-86993304	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr12:87007939-87008139	GM12878	blood:	n/a	chr12:87008014-87008025
43	EBF1	chr12:86944020-86944193	GM12878	blood:	n/a	n/a
44	EBF1	chr12:87014456-87014534	GM12878	blood:	n/a	n/a
45	EP300	chr12:87007123-87007472	SK-N-SH	brain:	n/a	chr12:87007310-87007324 chr12:87007290-87007299
46	EP300	chr12:86949249-86949591	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr12:86949052-86949851	SK-N-SH	brain:	n/a	n/a
48	EP300	chr12:86966230-86966665	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr12:86965922-86967109	SK-N-SH	brain:	n/a	chr12:86966810-86966824
50	EP300	chr12:87007114-87007477	Hela-S3	cervix:	n/a	chr12:87007310-87007324 chr12:87007290-87007299

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:86994755-86994805	HEK293	kidney:	embryo
2	chr12:86994815-86994865	HL-60	blood:	n/a
3	chr12:86995758-86995808	HIPEpiC	eye:	n/a
4	chr12:86994815-86994865	Hela-S3	cervix:	n/a
5	chr12:86994755-86994805	MCF10A-Er-Src	breast:	n/a
6	chr12:86995819-86995869	CMK	blood:	n/a
7	chr12:86994755-86994805	NHDF-neo	bronchial:	n/a
8	chr12:86994815-86994865	NT2-D1	testis:	n/a
9	chr12:86995819-86995869	T-47D	breast:	n/a
10	chr12:86995758-86995808	ovcar-3	ovarian:	n/a
11	chr12:86994755-86994805	AG04449	skin:	fetal
12	chr12:86995758-86995808	H1-hESC	embryonic stem cell:	embryo
13	chr12:86994755-86994805	PANC-1	pancreas:	n/a
14	chr12:86995819-86995869	HNPCEpiC	eye:	n/a
15	chr12:86994755-86994805	Hela-S3	cervix:	n/a
16	chr12:86994755-86994805	Caco-2	colon:	n/a
17	chr12:86994755-86994805	AG09319	gingival:	n/a
18	chr12:86995758-86995808	MCF10A-Er-Src	breast:	n/a
19	chr12:86994815-86994865	HRCEpiC	kidney:	n/a
20	chr12:86995819-86995869	GM19239	blood:	n/a
21	chr12:86994815-86994865	MCF10A-Er-Src	breast:	n/a
22	chr12:86995758-86995808	BJ	skin:	n/a
23	chr12:86995819-86995869	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:86994755-86994805	K562	blood:	n/a
25	chr12:86995758-86995808	HCM	heart:	n/a
26	chr12:86995758-86995808	HCF	heart:	n/a
27	chr12:86995819-86995869	Jurkat	blood:	n/a
28	chr12:86994815-86994865	NB4	blood:	n/a
29	chr12:86995758-86995808	T-47D	breast:	n/a
30	chr12:86995819-86995869	HepG2	liver:	n/a
31	chr12:86995758-86995808	Hepatocyte	liver:	n/a
32	chr12:86995758-86995808	SK-N-MC	brain:	n/a
33	chr12:86994755-86994805	Jurkat	blood:	n/a
34	chr12:86995819-86995869	HAEpiC	amniotic membrane:	n/a
35	chr12:86994815-86994865	GM06990	blood:	n/a
36	chr12:86995819-86995869	SKMC	muscle:	n/a
37	chr12:86994755-86994805	CMK	blood:	n/a
38	chr12:86995758-86995808	PFSK-1	brain:	n/a
39	chr12:86995758-86995808	HUVEC	blood vessel:	n/a
40	chr12:86994755-86994805	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:86994815-86994865	BE2_C	brain:	n/a
42	chr12:86994815-86994865	HIPEpiC	eye:	n/a
43	chr12:86995819-86995869	HEK293	kidney:	embryo
44	chr12:86995758-86995808	AG09309	skin:	n/a
45	chr12:86994755-86994805	GM12892	blood:	n/a
46	chr12:86995758-86995808	PrEC	prostate:	n/a
47	chr12:86995819-86995869	AG09319	gingival:	n/a
48	chr12:86994815-86994865	HEK293	kidney:	embryo
49	chr12:86994755-86994805	MCF-7	breast:	n/a
50	chr12:86995758-86995808	AG04449	skin:	fetal

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86995005-86995081	NONHSAT029759
2	lnc-MGAT4C-2	chr12:86951512-86952255	l_687_chr12:86951511-86953159_testes
3	lnc-MGAT4C-1	chr12:86993355-86993438	ENSG00000258185
4	lnc-MGAT4C-1	chr12:86993355-86993438	NONHSAT029759
5	lnc-MGAT4C-2	chr12:86953025-86953268	l_687_chr12:86951511-86953159_testes

No data

Variant related genes	Relation type
MGAT4C	TF binding region
MGAT4C	CpG island

Extended variants
information (count: 554 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10669356	chr12:86937610-86937611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35094879	chr12:86937611-86937612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556375839	chr12:86937627-86937628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74771053	chr12:86937641-86937642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545216992	chr12:86937669-86937670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554227724	chr12:86937670-86937671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116718190	chr12:86937671-86937672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190949067	chr12:86937733-86937734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561189236	chr12:86937776-86937777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531523961	chr12:86944430-86944431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180916852	chr12:86944431-86944432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573868139	chr12:86944536-86944537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185480702	chr12:86944547-86944548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532032287	chr12:86944562-86944563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541290983	chr12:86944582-86944583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552970461	chr12:86944607-86944608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142479583	chr12:86944613-86944614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534268984	chr12:86944629-86944630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549257117	chr12:86944644-86944645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112961498	chr12:86944663-86944664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377082337	chr12:86944703-86944704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73175234	chr12:86944717-86944718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369773370	chr12:86944722-86944723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138529370	chr12:86944732-86944733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577799883	chr12:86944733-86944734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538740425	chr12:86944736-86944737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554233975	chr12:86944745-86944746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566311813	chr12:86944760-86944761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572466233	chr12:86944772-86944773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542982372	chr12:86944797-86944798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370167914	chr12:86944799-86944800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111667665	chr12:86944812-86944813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567587264	chr12:86944850-86944851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543575633	chr12:86944853-86944854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141581431	chr12:86944854-86944855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532262297	chr12:86944932-86944933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12810353	chr12:86944938-86944939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189846392	chr12:86944942-86944943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146270194	chr12:86944947-86944948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74678798	chr12:86944949-86944950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549271331	chr12:86944955-86944956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12809906	chr12:86944961-86944962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376838822	chr12:86944983-86944984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567594587	chr12:86944984-86944985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531829834	chr12:86944985-86944986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563485436	chr12:86944993-86944994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149504923	chr12:86945028-86945029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12810594	chr12:86945092-86945093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368928312	chr12:86945096-86945097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11103988	chr12:86945109-86945110	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86937600-86937800	Enhancers	Right Atrium	heart
2	chr12:86944400-86945000	Enhancers	Aorta	Aorta
3	chr12:86944400-86945600	Enhancers	Adipose Nuclei	Adipose
4	chr12:86944800-86945200	Enhancers	Brain Hippocampus Middle	brain
5	chr12:86944800-86945600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:86944800-86945600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:86961400-86961600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:86964600-86964800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:86976200-86976600	Enhancers	Fetal Brain Male	brain
10	chr12:86977000-86977400	Enhancers	Adipose Nuclei	Adipose
11	chr12:86977400-86978400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:86978400-86978600	Enhancers	Adipose Nuclei	Adipose
13	chr12:86994400-86994600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:86994600-86994800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:86994600-86994800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:86994800-86995000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:86994800-86997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:86995000-86996000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:86998000-86999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:86998000-86999600	Enhancers	NHEK	skin
21	chr12:86998200-86999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:86999000-86999600	Enhancers	Hela-S3	cervix
23	chr12:87006600-87007800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:87006800-87008200	Enhancers	Hela-S3	cervix
25	chr12:87006800-87008200	Enhancers	NHEK	skin
26	chr12:87007600-87008200	Enhancers	Fetal Lung	lung
27	chr12:87016400-87017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:87017600-87018600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:87018600-87028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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