Variant report

Variant	nsv527123
Chromosome Location	chr12:10364170-10364362
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	ATF3	chr12:10364045-10365247	A549	lung:	n/a	chr12:10364404-10364413 chr12:10364393-10364413 chr12:10365025-10365036
2	ATF3	chr12:10364219-10365497	A549	lung:	n/a	chr12:10365445-10365465 chr12:10365446-10365453 chr12:10365440-10365454 chr12:10365442-10365453 chr12:10365446-10365454 chr12:10364404-10364413 chr12:10364393-10364413 chr12:10365443-10365456 chr12:10365025-10365036 chr12:10365446-10365456 chr12:10365444-10365455 chr12:10365442-10365457 chr12:10365443-10365456 chr12:10365434-10365454 chr12:10365422-10365431 chr12:10365444-10365457 chr12:10365445-10365456 chr12:10365445-10365453 chr12:10365446-10365456 chr12:10365427-10365436 chr12:10365443-10365454
3	BHLHE40	chr12:10364256-10366843	K562	blood:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
4	BHLHE40	chr12:10364247-10365532	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
5	BHLHE40	chr12:10364219-10365690	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
6	CHD1	chr12:10363939-10368549	IMR90	lung:	n/a	chr12:10365036-10365046 chr12:10365423-10365433
7	FOSL2	chr12:10364356-10365658	A549	lung:	n/a	chr12:10364966-10364974 chr12:10365426-10365435 chr12:10364965-10364976 chr12:10365445-10365454 chr12:10365421-10365430
8	GATA3	chr12:10364349-10365759	A549	lung:	n/a	chr12:10365168-10365178
9	GTF3C2	chr12:10364355-10365330	Hela-S3	cervix:	n/a	n/a
10	MAX	chr12:10364357-10366799	A549	lung:	n/a	chr12:10366638-10366648 chr12:10365656-10365666 chr12:10364404-10364413
11	MAX	chr12:10364300-10364486	HepG2	liver:	n/a	chr12:10364404-10364413
12	RCOR1	chr12:10364345-10366923	Hela-S3	cervix:	n/a	n/a
13	RPC155	chr12:10364146-10365058	Hela-S3	cervix:	n/a	n/a
14	RPC155	chr12:10364280-10365044	K562	blood:	n/a	n/a
15	SP1	chr12:10364353-10365764	HCT-116	colon:	n/a	chr12:10365423-10365437 chr12:10365422-10365432 chr12:10365421-10365433 chr12:10365421-10365433 chr12:10365428-10365437 chr12:10365561-10365570 chr12:10365428-10365437 chr12:10365426-10365438 chr12:10365423-10365432 chr12:10365427-10365436 chr12:10365422-10365431 chr12:10365560-10365569 chr12:10365422-10365432 chr12:10365423-10365432 chr12:10365426-10365438 chr12:10365418-10365432 chr12:10365560-10365569
16	USF1	chr12:10364318-10364497	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
17	USF1	chr12:10364342-10364490	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
18	USF1	chr12:10364202-10364572	K562	blood:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
19	USF1	chr12:10364300-10364447	SK-N-SH_RA	brain:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
20	USF1	chr12:10364265-10364514	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
21	USF1	chr12:10364183-10364606	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
22	USF1	chr12:10364233-10364501	H1-hESC	embryonic stem cell:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
23	USF1	chr12:10364226-10364562	A549	lung:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364402-10364413 chr12:10364398-10364419
24	USF2	chr12:10364314-10364514	HepG2	liver:	n/a	chr12:10364402-10364415 chr12:10364403-10364412 chr12:10364404-10364413 chr12:10364404-10364413 chr12:10364398-10364419
25	ZNF143	chr12:10364315-10364326	Hela-S3	cervix:	n/a	n/a
26	ZNF263	chr12:10364101-10366834	HEK293-T-REx	kidney:	n/a	chr12:10365038-10365047

No.	Distal block	Cell Line	Cell type
1	chr12:9913257..9914775-chr12:10363988..10366451,2	K562	blood:
2	chr12:10364094..10366158-chr12:10825514..10827785,2	K562	blood:
3	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLR1-5	chr12:10364207-10364319	NONHSAT026870
2	lnc-OLR1-5	chr12:10364207-10364719	NONHSAT026871

Variant related genes	Relation type
GABARAPL1	TF binding region
ENSG00000110848	chromatin interactions
ENSG00000134539	chromatin interactions
ENSG00000060140	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11053685	chr12:10364170-10364171	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549900424	chr12:10364196-10364197	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs569501770	chr12:10364206-10364207	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs538426348	chr12:10364225-10364226	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs115322270	chr12:10364256-10364257	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs578166649	chr12:10364303-10364304	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs10845073	chr12:10364306-10364307	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs553838839	chr12:10364308-10364309	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs573967820	chr12:10364317-10364318	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs4764326	chr12:10364337-10364338	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11053686	chr12:10364343-10364344	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4764327	chr12:10364362-10364363	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10358200-10364600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:10358200-10364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:10358600-10364600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:10358800-10364200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:10358800-10364200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:10358800-10365000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:10358800-10365000	Weak transcription	Hela-S3	cervix
8	chr12:10359200-10364200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:10360200-10364600	Weak transcription	HUVEC	blood vessel
10	chr12:10360600-10364600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:10360800-10364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:10362600-10364800	Enhancers	Placenta	Placenta
13	chr12:10363400-10364600	Enhancers	Fetal Muscle Trunk	muscle
14	chr12:10363800-10364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:10363800-10364600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:10364000-10367400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:10364200-10364400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:10364200-10364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:10364200-10364400	Enhancers	A549	lung
20	chr12:10364200-10364600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:10364200-10364600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:10364200-10364600	Enhancers	K562	blood
23	chr12:10364200-10365000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:10364200-10367600	Active TSS	HSMMtube	muscle

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