Variant report

Variant	nsv899402
Chromosome Location	chr12:87225050-87287609
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	ATF1	chr12:87283289-87283337	K562	blood:	n/a	n/a
2	BRCA1	chr12:87280525-87280594	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:87271114-87271390	H1-hESC	embryonic stem cell:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
4	CEBPB	chr12:87271055-87271397	HepG2	liver:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
5	CEBPB	chr12:87251221-87251487	HepG2	liver:	n/a	chr12:87251355-87251366
6	CEBPB	chr12:87271059-87271363	A549	lung:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
7	CEBPB	chr12:87271065-87271403	IMR90	lung:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
8	CEBPB	chr12:87271066-87271372	K562	blood:	n/a	chr12:87271223-87271236 chr12:87271225-87271234 chr12:87271223-87271236 chr12:87271225-87271236 chr12:87271223-87271234
9	CTCF	chr12:87232840-87232990	BE2_C	brain:	n/a	n/a
10	CTCF	chr12:87276760-87276910	RPTEC	kidney:	n/a	n/a
11	CTCF	chr12:87232700-87232850	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:87232740-87232890	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr12:87232750-87232860	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:87232744-87232824	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:87232740-87232890	HPF	lung:	n/a	n/a
16	CTCF	chr12:87270343-87270362	LNCaP	prostate:	n/a	n/a
17	CTCF	chr12:87232720-87232870	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr12:87232723-87232862	Medullo	brain:	n/a	n/a
19	CTCF	chr12:87273052-87273090	Lung_OC	lung:	n/a	n/a
20	CTCF	chr12:87232700-87232850	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr12:87232700-87232850	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr12:87284606-87284672	GM13976	blood:	n/a	n/a
23	CTCF	chr12:87232580-87232730	A549	lung:	n/a	n/a
24	CTCF	chr12:87257764-87257790	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr12:87268160-87268310	GM12865	blood:	n/a	n/a
26	CTCF	chr12:87232760-87232910	BE2_C	brain:	n/a	n/a
27	CTCF	chr12:87232700-87232850	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr12:87232720-87232870	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr12:87232640-87232790	AG09319	gingival:	n/a	n/a
30	E2F4	chr12:87244927-87245211	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr12:87234759-87234930	GM12878	blood:	n/a	chr12:87234879-87234890
32	EBF1	chr12:87228266-87228458	GM12878	blood:	n/a	n/a
33	EP300	chr12:87255343-87255396	K562	blood:	n/a	n/a
34	EP300	chr12:87247526-87247927	SK-N-SH_RA	brain:	n/a	n/a
35	FAM48A	chr12:87276700-87276878	GM12878	blood:	n/a	n/a
36	JUN	chr12:87230977-87231307	H1-hESC	embryonic stem cell:	n/a	chr12:87231155-87231165 chr12:87231154-87231166 chr12:87231155-87231165 chr12:87231156-87231164 chr12:87231155-87231165 chr12:87231155-87231165
37	JUN	chr12:87241933-87242009	K562	blood:	n/a	n/a
38	JUND	chr12:87230977-87231527	H1-hESC	embryonic stem cell:	n/a	chr12:87231155-87231165 chr12:87231154-87231166 chr12:87231155-87231165 chr12:87231156-87231164 chr12:87231155-87231165 chr12:87231155-87231165
39	MAFF	chr12:87235996-87236127	K562	blood:	n/a	n/a
40	MAFF	chr12:87232055-87232427	K562	blood:	n/a	chr12:87232232-87232246 chr12:87232226-87232244
41	MAFF	chr12:87232053-87232436	HepG2	liver:	n/a	chr12:87232232-87232246 chr12:87232226-87232244
42	MAFF	chr12:87235932-87236176	HepG2	liver:	n/a	n/a
43	MAFK	chr12:87232054-87232429	Hela-S3	cervix:	n/a	chr12:87232228-87232243 chr12:87232231-87232247 chr12:87232228-87232239 chr12:87232228-87232244 chr12:87232229-87232249 chr12:87232228-87232239
44	MAFK	chr12:87258843-87259009	HepG2	liver:	n/a	n/a
45	MAFK	chr12:87277611-87277785	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr12:87232050-87232428	HepG2	liver:	n/a	chr12:87232228-87232243 chr12:87232231-87232247 chr12:87232228-87232239 chr12:87232228-87232244 chr12:87232229-87232249 chr12:87232228-87232239
47	MAFK	chr12:87283363-87283618	HepG2	liver:	n/a	n/a
48	MAFK	chr12:87235980-87236184	HepG2	liver:	n/a	n/a
49	MAFK	chr12:87257173-87257356	HepG2	liver:	n/a	chr12:87257233-87257248 chr12:87257234-87257245
50	MAFK	chr12:87274813-87274967	HepG2	liver:	n/a	chr12:87274875-87274886 chr12:87274866-87274886 chr12:87274876-87274887 chr12:87274875-87274886 chr12:87274874-87274888 chr12:87274876-87274887

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:87232821-87232871	NHBE	bronchial:	n/a
2	chr12:87232821-87232871	HCM	heart:	n/a
3	chr12:87232821-87232871	HCPEpiC	choroid plexus:	n/a
4	chr12:87232692-87232742	HRE	kidney:	n/a
5	chr12:87232692-87232742	RPTEC	kidney:	n/a
6	chr12:87232692-87232742	NHBE	bronchial:	n/a
7	chr12:87232511-87232561	Hela-S3	cervix:	n/a
8	chr12:87232692-87232742	T-47D	breast:	n/a
9	chr12:87232511-87232561	GM06990	blood:	n/a
10	chr12:87232692-87232742	BJ	skin:	n/a
11	chr12:87232821-87232871	GM06990	blood:	n/a
12	chr12:87232511-87232561	HRE	kidney:	n/a
13	chr12:87232511-87232561	AG04449	skin:	fetal
14	chr12:87232692-87232742	ProgFib	skin:	n/a
15	chr12:87232511-87232561	HEEpiC	esophagus:	n/a
16	chr12:87232692-87232742	MCF10A-Er-Src	breast:	n/a
17	chr12:87232821-87232871	BE2_C	brain:	n/a
18	chr12:87232511-87232561	PrEC	prostate:	n/a
19	chr12:87232692-87232742	NT2-D1	testis:	n/a
20	chr12:87232821-87232871	HEK293	kidney:	embryo
21	chr12:87232692-87232742	SKMC	muscle:	n/a
22	chr12:87232821-87232871	K562	blood:	n/a
23	chr12:87232821-87232871	Jurkat	blood:	n/a
24	chr12:87232821-87232871	HepG2	liver:	n/a
25	chr12:87232692-87232742	PrEC	prostate:	n/a
26	chr12:87232821-87232871	Caco-2	colon:	n/a
27	chr12:87232511-87232561	H1-hESC	embryonic stem cell:	embryo
28	chr12:87232692-87232742	HepG2	liver:	n/a
29	chr12:87232692-87232742	NH-A	brain:	n/a
30	chr12:87232821-87232871	SK-N-SH_RA	brain:	n/a
31	chr12:87232821-87232871	PFSK-1	brain:	n/a
32	chr12:87232511-87232561	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:87232511-87232561	AG10803	skin:	n/a
34	chr12:87232511-87232561	SK-N-SH	brain:	n/a
35	chr12:87232821-87232871	ProgFib	skin:	n/a
36	chr12:87232692-87232742	PANC-1	pancreas:	n/a
37	chr12:87232821-87232871	AG09309	skin:	n/a
38	chr12:87232511-87232561	NHDF-neo	bronchial:	n/a
39	chr12:87232692-87232742	U87	brain:	n/a
40	chr12:87232821-87232871	NH-A	brain:	n/a
41	chr12:87232511-87232561	HMEC	breast:	n/a
42	chr12:87232821-87232871	HRCEpiC	kidney:	n/a
43	chr12:87232511-87232561	SK-N-MC	brain:	n/a
44	chr12:87232692-87232742	HAEpiC	amniotic membrane:	n/a
45	chr12:87232511-87232561	A549	lung:	n/a
46	chr12:87232692-87232742	GM19239	blood:	n/a
47	chr12:87232692-87232742	LNCaP	prostate:	n/a
48	chr12:87232692-87232742	K562	blood:	n/a
49	chr12:87232821-87232871	MCF-7	breast:	n/a
50	chr12:87232511-87232561	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87237467..87238342-chr7:40961627..40962369,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:87232443-87232681	NONHSAT029762
2	lnc-MGAT4C-1	chr12:87232443-87232775	ENSG00000258185
3	lnc-MGAT4C-1	chr12:87232443-87232905	ENSG00000258185

Variant related genes	Relation type
MGAT4C	TF binding region
ENSG00000258185	TF binding region
MGAT4C	CpG island
ENSG00000258185	CpG island

Extended variants
information (count: 386 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61949615	chr12:87226378-87226379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530229773	chr12:87226392-87226393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548329613	chr12:87226396-87226397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192432857	chr12:87226399-87226400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34570644	chr12:87226423-87226424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375098294	chr12:87226459-87226460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369542058	chr12:87226499-87226500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183775237	chr12:87226529-87226530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199701855	chr12:87226546-87226547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552177934	chr12:87226547-87226548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570737611	chr12:87226620-87226621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200734761	chr12:87226708-87226709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79299413	chr12:87226709-87226710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368265915	chr12:87226715-87226716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534949813	chr12:87226717-87226718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549889924	chr12:87226733-87226734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574620314	chr12:87226741-87226742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11104118	chr12:87226774-87226775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557151055	chr12:87226806-87226807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140965421	chr12:87226807-87226808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545886761	chr12:87226817-87226818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558301386	chr12:87226826-87226827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564136459	chr12:87226831-87226832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572741096	chr12:87226875-87226876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144767282	chr12:87226878-87226879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559799911	chr12:87226895-87226896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11835356	chr12:87226898-87226899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs138719454	chr12:87226931-87226932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563514707	chr12:87226945-87226946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530943543	chr12:87226994-87226995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552241043	chr12:87227081-87227082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11104119	chr12:87227122-87227123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575004985	chr12:87227129-87227130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117588516	chr12:87227152-87227153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574428186	chr12:87227182-87227183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149370572	chr12:87227191-87227192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535712046	chr12:87227208-87227209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377085580	chr12:87227219-87227220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557214364	chr12:87227221-87227222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35620813	chr12:87227239-87227240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143726713	chr12:87227242-87227243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539581942	chr12:87227285-87227286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370471688	chr12:87227289-87227290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146120043	chr12:87227303-87227304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188062908	chr12:87227424-87227425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117771254	chr12:87227449-87227450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192392588	chr12:87227486-87227487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555309938	chr12:87227501-87227502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577408310	chr12:87227532-87227533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369401859	chr12:87227535-87227536	Weak transcription	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
Melanoma	17363583	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87226200-87230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:87228600-87230600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:87229200-87229400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:87229200-87232800	Active TSS	Fetal Brain Female	brain
5	chr12:87229400-87230000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:87229400-87233200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:87230000-87232600	Active TSS	Fetal Brain Male	brain
8	chr12:87230000-87232800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:87230200-87230800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:87230200-87232800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:87230600-87231000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:87230600-87232600	Active TSS	Brain Anterior Caudate	brain
13	chr12:87230600-87232800	Active TSS	Brain Hippocampus Middle	brain
14	chr12:87230800-87231200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:87230800-87231200	Active TSS	Brain Germinal Matrix	brain
16	chr12:87230800-87231600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:87230800-87232800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:87230800-87232800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:87231000-87231400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:87231000-87231400	Enhancers	Aorta	Aorta
21	chr12:87231000-87233000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:87231200-87232800	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:87231200-87233000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:87231400-87231800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:87231400-87232800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:87231600-87232800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:87231800-87232400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:87232200-87232800	Active TSS	Fetal Lung	lung
29	chr12:87232200-87232800	Active TSS	Fetal Muscle Leg	muscle
30	chr12:87232200-87232800	Active TSS	Right Atrium	heart
31	chr12:87232200-87233000	Active TSS	Brain Angular Gyrus	brain
32	chr12:87232400-87232800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:87232400-87232800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr12:87232600-87232800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr12:87232600-87233200	Weak transcription	Fetal Brain Male	brain
36	chr12:87232800-87233000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:87232800-87233000	Enhancers	Fetal Lung	lung
38	chr12:87233000-87234000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:87233200-87234000	Enhancers	Fetal Brain Male	brain
40	chr12:87234000-87234600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:87263000-87263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:87286400-87286600	Enhancers	Gastric	stomach
43	chr12:87286600-87286800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:87286600-87286800	ZNF genes & repeats	Gastric	stomach

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