Variant report

Variant	esv3506595
Chromosome Location	chr12:8575976-8596827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:245)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:8591390-8591459	GM10248	blood:	n/a	n/a
2	CTCF	chr12:8596656-8596747	GM13976	blood:	n/a	n/a
3	CTCF	chr12:8594350-8594390	LNCaP	prostate:	n/a	n/a
4	PBX3	chr12:8579279-8579450	GM12878	blood:	n/a	n/a
5	PBX3	chr12:8579524-8579941	GM12878	blood:	n/a	n/a
6	PBX3	chr12:8577350-8577526	GM12878	blood:	n/a	n/a
7	PBX3	chr12:8578295-8578471	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:8579590-8579793	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:8582043-8582651	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:8583826-8583952	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:8582280-8582579	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
14	SPI1	chr12:8584416-8584538	K562	blood:	n/a	n/a
15	TCF3	chr12:8579004-8579996	GM12878	blood:	n/a	n/a
16	USF1	chr12:8596150-8596307	HepG2	liver:	n/a	chr12:8596241-8596252
17	USF1	chr12:8596178-8596366	H1-hESC	embryonic stem cell:	n/a	chr12:8596241-8596252
18	USF1	chr12:8596126-8596348	K562	blood:	n/a	chr12:8596241-8596252
19	USF1	chr12:8596174-8596297	GM12878	blood:	n/a	chr12:8596241-8596252
20	USF1	chr12:8596136-8596325	HepG2	liver:	n/a	chr12:8596241-8596252

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8596201-8596251	GM06990	blood:	n/a
2	chr12:8596201-8596251	GM06990	blood:	n/a
3	chr12:8594653-8594703	NH-A	brain:	n/a
4	chr12:8596201-8596251	HMEC	breast:	n/a
5	chr12:8596201-8596251	MCF10A-Er-Src	breast:	n/a
6	chr12:8596320-8596370	H1-hESC	embryonic stem cell:	embryo
7	chr12:8594653-8594703	HEEpiC	esophagus:	n/a
8	chr12:8576728-8576778	ProgFib	skin:	n/a
9	chr12:8594653-8594703	Hepatocyte	liver:	n/a
10	chr12:8576728-8576778	HL-60	blood:	n/a
11	chr12:8596201-8596251	AG10803	skin:	n/a
12	chr12:8596201-8596251	PFSK-1	brain:	n/a
13	chr12:8596320-8596370	PFSK-1	brain:	n/a
14	chr12:8596201-8596251	SK-N-SH	brain:	n/a
15	chr12:8576728-8576778	HRPEpiC	eye:	n/a
16	chr12:8596201-8596251	HCM	heart:	n/a
17	chr12:8576728-8576778	HRCEpiC	kidney:	n/a
18	chr12:8596320-8596370	HCM	heart:	n/a
19	chr12:8596201-8596251	NHBE	bronchial:	n/a
20	chr12:8596320-8596370	MCF10A-Er-Src	breast:	n/a
21	chr12:8596320-8596370	HCT-116	colon:	n/a
22	chr12:8594653-8594703	K562	blood:	n/a
23	chr12:8576728-8576778	IMR90	lung:	fetal
24	chr12:8594653-8594703	HRE	kidney:	n/a
25	chr12:8576728-8576778	HEK293	kidney:	embryo
26	chr12:8594653-8594703	HepG2	liver:	n/a
27	chr12:8596320-8596370	HL-60	blood:	n/a
28	chr12:8596320-8596370	HNPCEpiC	eye:	n/a
29	chr12:8576728-8576778	Caco-2	colon:	n/a
30	chr12:8596320-8596370	HRPEpiC	eye:	n/a
31	chr12:8576728-8576778	ECC-1	luminal epithelium:	n/a
32	chr12:8596201-8596251	H1-hESC	embryonic stem cell:	embryo
33	chr12:8596201-8596251	HCPEpiC	choroid plexus:	n/a
34	chr12:8596201-8596251	PrEC	prostate:	n/a
35	chr12:8596320-8596370	PrEC	prostate:	n/a
36	chr12:8594653-8594703	GM12891	blood:	n/a
37	chr12:8594653-8594703	SKMC	muscle:	n/a
38	chr12:8576728-8576778	GM12892	blood:	n/a
39	chr12:8596320-8596370	HMEC	breast:	n/a
40	chr12:8596320-8596370	RPTEC	kidney:	n/a
41	chr12:8576728-8576778	A549	lung:	n/a
42	chr12:8576728-8576778	AG10803	skin:	n/a
43	chr12:8596320-8596370	PANC-1	pancreas:	n/a
44	chr12:8596320-8596370	HCPEpiC	choroid plexus:	n/a
45	chr12:8576728-8576778	HCM	heart:	n/a
46	chr12:8594653-8594703	Jurkat	blood:	n/a
47	chr12:8596201-8596251	RPTEC	kidney:	n/a
48	chr12:8596201-8596251	NHDF-neo	bronchial:	n/a
49	chr12:8576728-8576778	HRE	kidney:	n/a
50	chr12:8596320-8596370	GM19239	blood:	n/a

No data

Variant related genes	Relation type
OR7E148P	TF binding region
OR7E149P	TF binding region
ENSG00000266218	TF binding region
OR7E148P	CpG island
OR7E149P	CpG island
ENSG00000266218	CpG island

Extended variants
information (count: 278 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183149062	chr12:8579388-8579389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188041004	chr12:8579394-8579395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192555681	chr12:8579433-8579434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548086774	chr12:8579451-8579452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567796247	chr12:8579469-8579470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182582371	chr12:8579484-8579485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187752359	chr12:8579487-8579488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192669075	chr12:8579490-8579491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184282240	chr12:8579500-8579501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189048220	chr12:8579504-8579505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs192952328	chr12:8579512-8579513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145846535	chr12:8579513-8579514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375426119	chr12:8579549-8579550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369778351	chr12:8579575-8579576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373345791	chr12:8579578-8579579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377739579	chr12:8579603-8579604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184755358	chr12:8579606-8579607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189627371	chr12:8579691-8579692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138267569	chr12:8579810-8579811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs74467549	chr12:8579812-8579813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184506761	chr12:8579830-8579831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189396872	chr12:8579849-8579850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370387260	chr12:8579919-8579920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181999738	chr12:8579948-8579949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374763201	chr12:8579979-8579980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562851258	chr12:8582048-8582049	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs187203090	chr12:8582068-8582069	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs113761493	chr12:8582078-8582079	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs191238202	chr12:8582091-8582092	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs183960032	chr12:8582098-8582099	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs190592466	chr12:8582100-8582101	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs111281410	chr12:8582124-8582125	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs112004664	chr12:8582207-8582208	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs189879728	chr12:8582217-8582218	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs181590801	chr12:8582269-8582270	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs185318842	chr12:8582346-8582347	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs188567524	chr12:8582347-8582348	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs180833430	chr12:8582353-8582354	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs377235345	chr12:8582376-8582377	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs185238324	chr12:8582398-8582399	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs192192004	chr12:8582401-8582402	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs183721899	chr12:8582406-8582407	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs374430216	chr12:8582450-8582451	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs376413046	chr12:8582527-8582528	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs113073839	chr12:8582562-8582563	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs370905305	chr12:8582601-8582602	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs113014249	chr12:8582629-8582630	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs368030555	chr12:8583827-8583828	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs112085104	chr12:8583855-8583856	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs112148773	chr12:8583860-8583861	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8592200-8593800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood

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