Variant report

Variant	esv3528969
Chromosome Location	chr12:10703398-10703920
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	ELF1	chr12:10703801-10704407	GM12878	blood:	n/a	chr12:10704304-10704313
2	NRF1	chr12:10703873-10704577	SK-N-SH	brain:	n/a	chr12:10704336-10704347 chr12:10704333-10704347

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAGOHB-2	chr12:10703865-10704134	NONHSAT026885
2	lnc-EIF2S3L.1-4	chr12:10703809-10704403	NONHSAT026884

Variant related genes	Relation type
ENSG00000256039	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560211229	chr12:10703399-10703400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187949364	chr12:10703406-10703407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16915318	chr12:10703451-10703452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs114868030	chr12:10703454-10703455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531532500	chr12:10703478-10703479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551634070	chr12:10703555-10703556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571190789	chr12:10703656-10703657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533777887	chr12:10703662-10703663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553754216	chr12:10703676-10703677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567375707	chr12:10703705-10703706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536315480	chr12:10703738-10703739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143650100	chr12:10703790-10703791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200634187	chr12:10703814-10703815	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs398044270	chr12:10703816-10703817	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs398018398	chr12:10703817-10703818	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs67755400	chr12:10703861-10703862	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10699600-10705200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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