Variant report

Variant	esv2750761
Chromosome Location	chr12:20966147-20967134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:20966841-20967179	MCF10A-Er-Src	breast:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:20966524-20966574	NB4	blood:	n/a
2	chr12:20966524-20966574	NB4	blood:	n/a
3	chr12:20966524-20966574	BJ	skin:	n/a
4	chr12:20966524-20966574	HRE	kidney:	n/a
5	chr12:20966524-20966574	HCPEpiC	choroid plexus:	n/a
6	chr12:20966524-20966574	HNPCEpiC	eye:	n/a
7	chr12:20966524-20966574	AG04449	skin:	fetal
8	chr12:20966524-20966574	BE2_C	brain:	n/a
9	chr12:20966439-20966489	SK-N-MC	brain:	n/a
10	chr12:20966524-20966574	A549	lung:	n/a
11	chr12:20966439-20966489	HCF	heart:	n/a
12	chr12:20966524-20966574	HMEC	breast:	n/a
13	chr12:20966439-20966489	HEEpiC	esophagus:	n/a
14	chr12:20966439-20966489	AG09309	skin:	n/a
15	chr12:20966439-20966489	HepG2	liver:	n/a
16	chr12:20966439-20966489	BE2_C	brain:	n/a
17	chr12:20966439-20966489	T-47D	breast:	n/a
18	chr12:20966524-20966574	SK-N-MC	brain:	n/a
19	chr12:20966439-20966489	GM12891	blood:	n/a
20	chr12:20966439-20966489	NB4	blood:	n/a
21	chr12:20966439-20966489	SAEC	small airway:	n/a
22	chr12:20966439-20966489	BJ	skin:	n/a
23	chr12:20966439-20966489	PFSK-1	brain:	n/a
24	chr12:20966524-20966574	MCF-7	breast:	n/a
25	chr12:20966524-20966574	SAEC	small airway:	n/a
26	chr12:20966439-20966489	ECC-1	luminal epithelium:	n/a
27	chr12:20966439-20966489	HCPEpiC	choroid plexus:	n/a
28	chr12:20966524-20966574	GM06990	blood:	n/a
29	chr12:20966524-20966574	HEEpiC	esophagus:	n/a
30	chr12:20966439-20966489	AG04449	skin:	fetal
31	chr12:20966524-20966574	K562	blood:	n/a
32	chr12:20966439-20966489	GM12892	blood:	n/a
33	chr12:20966524-20966574	IMR90	lung:	fetal
34	chr12:20966439-20966489	HRE	kidney:	n/a
35	chr12:20966439-20966489	AG04450	lung:	fetal
36	chr12:20966524-20966574	GM19239	blood:	n/a
37	chr12:20966524-20966574	U87	brain:	n/a
38	chr12:20966524-20966574	HCF	heart:	n/a
39	chr12:20966439-20966489	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:20966439-20966489	MCF-7	breast:	n/a
41	chr12:20966524-20966574	MCF10A-Er-Src	breast:	n/a
42	chr12:20966524-20966574	GM12892	blood:	n/a
43	chr12:20966524-20966574	ProgFib	skin:	n/a
44	chr12:20966524-20966574	HIPEpiC	eye:	n/a
45	chr12:20966439-20966489	Hepatocyte	liver:	n/a
46	chr12:20966439-20966489	HMEC	breast:	n/a
47	chr12:20966439-20966489	H1-hESC	embryonic stem cell:	embryo
48	chr12:20966439-20966489	Jurkat	blood:	n/a
49	chr12:20966439-20966489	NHDF-neo	bronchial:	n/a
50	chr12:20966524-20966574	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
SLCO1B3	TF binding region
ENSG00000257046	TF binding region
SLCO1B7	TF binding region
SLCO1B3	CpG island
ENSG00000257046	CpG island
SLCO1B7	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143610819	chr12:20966161-20966162	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181157166	chr12:20966166-20966167	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151240060	chr12:20966168-20966169	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555210037	chr12:20966169-20966170	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184073669	chr12:20966193-20966194	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539401410	chr12:20966197-20966198	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540818615	chr12:20966212-20966213	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377188853	chr12:20966214-20966215	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554001259	chr12:20966226-20966227	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370619680	chr12:20966247-20966248	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374243152	chr12:20966277-20966278	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577252764	chr12:20966309-20966310	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545894486	chr12:20966312-20966313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7305269	chr12:20966330-20966331	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141543783	chr12:20966352-20966353	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576377238	chr12:20966354-20966355	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542023463	chr12:20966363-20966364	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544063459	chr12:20966417-20966418	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541240563	chr12:20966431-20966432	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76069495	chr12:20966451-20966452	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	Overlapped CNVs	n/a
21	rs546754716	chr12:20966460-20966461	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	Overlapped CNVs	n/a
22	rs566458025	chr12:20966468-20966469	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	Overlapped CNVs	n/a
23	rs532202007	chr12:20966469-20966470	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	Overlapped CNVs	n/a
24	rs373018826	chr12:20966508-20966509	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551886958	chr12:20966525-20966526	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	Overlapped CNVs	n/a
26	rs7305323	chr12:20966548-20966549	Flanking Active TSS Weak transcription	CpG island	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12810377	chr12:20966590-20966591	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555347281	chr12:20966614-20966615	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371958845	chr12:20966659-20966660	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147051270	chr12:20966666-20966667	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12812137	chr12:20966681-20966682	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148738813	chr12:20966687-20966688	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56844054	chr12:20966690-20966691	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554309066	chr12:20966696-20966697	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180856686	chr12:20966706-20966707	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1356149	chr12:20966722-20966723	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556148579	chr12:20966738-20966739	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187674988	chr12:20966757-20966758	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541820424	chr12:20966802-20966803	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201207851	chr12:20966810-20966811	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560879975	chr12:20966825-20966826	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531875089	chr12:20966832-20966833	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368006038	chr12:20966867-20966868	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs548846599	chr12:20966922-20966923	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs562171317	chr12:20966929-20966930	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs527879265	chr12:20966939-20966940	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs77714247	chr12:20966945-20966946	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs570518190	chr12:20966954-20966955	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs76036462	chr12:20966962-20966963	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs528701318	chr12:20966970-20966971	Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20964600-20969600	Weak transcription	A549	lung
2	chr12:20966000-20966400	Active TSS	Liver	Liver
3	chr12:20966400-20966800	Flanking Active TSS	Liver	Liver
4	chr12:20966800-20967400	Active TSS	Liver	Liver

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