Variant report

Variant	nsv983504
Chromosome Location	chr12:21264141-21284144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:21271000-21271136	HepG2	liver:	n/a	chr12:21271080-21271091
2	CEBPB	chr12:21282343-21282678	HepG2	liver:	n/a	chr12:21282598-21282609 chr12:21282528-21282539
3	CTCF	chr12:21270752-21270793	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr12:21269100-21269250	HPF	lung:	n/a	n/a
5	FOS	chr12:21281735-21281843	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr12:21271711-21271982	A549	lung:	n/a	chr12:21271866-21271878
7	FOSL2	chr12:21271546-21272096	A549	lung:	n/a	chr12:21271866-21271878
8	FOXA2	chr12:21271682-21271997	A549	lung:	n/a	n/a
9	JUN	chr12:21281615-21281893	HepG2	liver:	n/a	n/a
10	JUND	chr12:21281570-21281975	H1-hESC	embryonic stem cell:	n/a	chr12:21281789-21281800
11	JUND	chr12:21281620-21281976	HepG2	liver:	n/a	chr12:21281789-21281800
12	JUND	chr12:21281462-21282068	SK-N-SH	brain:	n/a	chr12:21281789-21281800
13	MAFF	chr12:21264669-21265036	HepG2	liver:	n/a	chr12:21264851-21264869
14	MAFF	chr12:21264729-21264964	K562	blood:	n/a	chr12:21264851-21264869
15	MAFK	chr12:21264683-21265039	HepG2	liver:	n/a	chr12:21264852-21264867
16	MAFK	chr12:21264693-21265011	IMR90	lung:	n/a	chr12:21264852-21264867
17	MAFK	chr12:21264678-21265043	HepG2	liver:	n/a	chr12:21264852-21264867
18	MAFK	chr12:21264745-21264933	H1-hESC	embryonic stem cell:	n/a	chr12:21264852-21264867
19	MAFK	chr12:21278495-21278701	HepG2	liver:	n/a	chr12:21278544-21278559
20	MAFK	chr12:21264717-21264973	K562	blood:	n/a	chr12:21264852-21264867
21	MAFK	chr12:21264755-21264966	Hela-S3	cervix:	n/a	chr12:21264852-21264867
22	MAZ	chr12:21270462-21270556	HepG2	liver:	n/a	n/a
23	MYC	chr12:21272661-21272751	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:21271055-21271121	A549	lung:	n/a	n/a
25	POLR2A	chr12:21272614-21272826	A549	lung:	n/a	n/a
26	POLR2A	chr12:21267920-21268093	MCF10A-Er-Src	breast:	n/a	n/a
27	PRDM1	chr12:21267352-21267689	Hela-S3	cervix:	n/a	chr12:21267451-21267466 chr12:21267506-21267521
28	STAT3	chr12:21266517-21266655	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr12:21276098-21276151	MCF10A-Er-Src	breast:	n/a	n/a
30	USF2	chr12:21270661-21270804	HepG2	liver:	n/a	n/a
31	YY1	chr12:21272705-21272930	H1-hESC	embryonic stem cell:	n/a	chr12:21272818-21272830

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21283725-21283775	HAEpiC	amniotic membrane:	n/a
2	chr12:21283725-21283775	Hepatocyte	liver:	n/a
3	chr12:21283725-21283775	IMR90	lung:	fetal
4	chr12:21283725-21283775	SAEC	small airway:	n/a
5	chr12:21283725-21283775	AG09309	skin:	n/a
6	chr12:21283725-21283775	AG04449	skin:	fetal
7	chr12:21283725-21283775	GM19239	blood:	n/a
8	chr12:21283725-21283775	CMK	blood:	n/a
9	chr12:21283725-21283775	T-47D	breast:	n/a
10	chr12:21283725-21283775	HEK293	kidney:	embryo
11	chr12:21283725-21283775	AG04450	lung:	fetal
12	chr12:21283725-21283775	SKMC	muscle:	n/a
13	chr12:21283725-21283775	Hela-S3	cervix:	n/a
14	chr12:21283725-21283775	LNCaP	prostate:	n/a
15	chr12:21283725-21283775	SK-N-SH_RA	brain:	n/a
16	chr12:21283725-21283775	H1-hESC	embryonic stem cell:	embryo
17	chr12:21283725-21283775	AG09319	gingival:	n/a
18	chr12:21283725-21283775	U87	brain:	n/a
19	chr12:21283725-21283775	HRPEpiC	eye:	n/a
20	chr12:21283725-21283775	HL-60	blood:	n/a
21	chr12:21283725-21283775	PFSK-1	brain:	n/a
22	chr12:21283725-21283775	SK-N-MC	brain:	n/a
23	chr12:21283725-21283775	AG10803	skin:	n/a
24	chr12:21283725-21283775	BE2_C	brain:	n/a
25	chr12:21283725-21283775	HCM	heart:	n/a
26	chr12:21283725-21283775	GM12878	blood:	n/a
27	chr12:21283725-21283775	GM12892	blood:	n/a
28	chr12:21283725-21283775	Caco-2	colon:	n/a
29	chr12:21283725-21283775	K562	blood:	n/a
30	chr12:21283725-21283775	HRE	kidney:	n/a
31	chr12:21283725-21283775	ECC-1	luminal epithelium:	n/a
32	chr12:21283725-21283775	SK-N-SH	brain:	n/a
33	chr12:21283725-21283775	NH-A	brain:	n/a
34	chr12:21283725-21283775	AoSMC	blood vessel:	n/a
35	chr12:21283725-21283775	PANC-1	pancreas:	n/a
36	chr12:21283725-21283775	GM12891	blood:	n/a
37	chr12:21283725-21283775	NHBE	bronchial:	n/a
38	chr12:21283725-21283775	ProgFib	skin:	n/a
39	chr12:21283725-21283775	Jurkat	blood:	n/a
40	chr12:21283725-21283775	HCPEpiC	choroid plexus:	n/a
41	chr12:21283725-21283775	HIPEpiC	eye:	n/a
42	chr12:21283725-21283775	NT2-D1	testis:	n/a
43	chr12:21283725-21283775	NHDF-neo	bronchial:	n/a
44	chr12:21283725-21283775	HepG2	liver:	n/a
45	chr12:21283725-21283775	GM06990	blood:	n/a
46	chr12:21283725-21283775	MCF-7	breast:	n/a
47	chr12:21283725-21283775	HCT-116	colon:	n/a
48	chr12:21283725-21283775	HCF	heart:	n/a
49	chr12:21283725-21283775	ovcar-3	ovarian:	n/a
50	chr12:21283725-21283775	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21268556..21269333-chr7:84915114..84915941,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLCO1B1	TF binding region
SLCO1B1	CpG island

Extended variants
information (count: 239 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562963497	chr12:21264410-21264411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553294106	chr12:21264419-21264420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548744101	chr12:21264426-21264427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1393459	chr12:21264438-21264439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536431340	chr12:21264463-21264464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563259992	chr12:21264494-21264495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76126538	chr12:21264499-21264500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77591142	chr12:21264508-21264509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547784752	chr12:21264531-21264532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192398951	chr12:21264542-21264543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539044224	chr12:21264550-21264551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549399467	chr12:21264569-21264570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559331651	chr12:21264687-21264688	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149904079	chr12:21264717-21264718	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535196142	chr12:21264759-21264760	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555503422	chr12:21264770-21264771	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111840689	chr12:21264816-21264817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144971010	chr12:21264831-21264832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79109327	chr12:21264899-21264900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113036199	chr12:21264941-21264942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575660986	chr12:21264976-21264977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148654383	chr12:21264977-21264978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562902037	chr12:21264992-21264993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539940545	chr12:21271017-21271018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150472839	chr12:21271021-21271022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542038687	chr12:21271031-21271032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374838801	chr12:21271034-21271035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59136327	chr12:21271069-21271070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138330904	chr12:21271070-21271071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367864140	chr12:21271090-21271091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527946869	chr12:21271099-21271100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541337403	chr12:21271162-21271163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12582588	chr12:21271198-21271199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532754867	chr12:21271203-21271204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374605042	chr12:21271213-21271214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149450788	chr12:21271219-21271220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558697361	chr12:21271247-21271248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143881490	chr12:21271253-21271254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548869807	chr12:21271271-21271272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565889755	chr12:21271293-21271294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35559368	chr12:21271298-21271299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74638803	chr12:21271310-21271311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571610630	chr12:21271366-21271367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1292917	chr12:21271369-21271370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564497673	chr12:21271372-21271373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112914102	chr12:21271396-21271397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181968452	chr12:21271424-21271425	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs542326904	chr12:21271425-21271426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs61122066	chr12:21271462-21271463	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4556597	chr12:21271580-21271581	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21264400-21264600	Active TSS	Liver	Liver
2	chr12:21264600-21264800	Flanking Active TSS	Liver	Liver
3	chr12:21264800-21265000	Enhancers	Liver	Liver
4	chr12:21271000-21271600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:21271400-21272000	Active TSS	A549	lung
6	chr12:21271600-21272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:21272000-21272600	Enhancers	A549	lung
8	chr12:21272200-21272600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:21272400-21272800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:21272400-21272800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:21272600-21272800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:21275400-21276200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:21281800-21282800	Enhancers	Liver	Liver
14	chr12:21282400-21283400	Enhancers	A549	lung
15	chr12:21282800-21283800	Flanking Active TSS	Liver	Liver
16	chr12:21283200-21283400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:21283800-21287600	Active TSS	Liver	Liver

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