Variant report

Variant	esv3415666
Chromosome Location	chr12:10702785-10704833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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
3	POLR2A	chr12:10703970-10704323	A549	lung:	n/a	n/a
4	POLR2A	chr12:10704132-10704219	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10704074-10704124	AG10803	skin:	n/a
2	chr12:10704009-10704059	CMK	blood:	n/a
3	chr12:10704074-10704124	NT2-D1	testis:	n/a
4	chr12:10704074-10704124	AG09309	skin:	n/a
5	chr12:10704318-10704368	ProgFib	skin:	n/a
6	chr12:10704074-10704124	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:10704074-10704124	HRCEpiC	kidney:	n/a
8	chr12:10704009-10704059	MCF10A-Er-Src	breast:	n/a
9	chr12:10704318-10704368	NHBE	bronchial:	n/a
10	chr12:10704074-10704124	HMEC	breast:	n/a
11	chr12:10704009-10704059	Caco-2	colon:	n/a
12	chr12:10704318-10704368	HNPCEpiC	eye:	n/a
13	chr12:10704318-10704368	HepG2	liver:	n/a
14	chr12:10704009-10704059	AG04449	skin:	fetal
15	chr12:10704318-10704368	GM12878	blood:	n/a
16	chr12:10704074-10704124	ECC-1	luminal epithelium:	n/a
17	chr12:10704318-10704368	AG09319	gingival:	n/a
18	chr12:10704318-10704368	GM12891	blood:	n/a
19	chr12:10704009-10704059	Hepatocyte	liver:	n/a
20	chr12:10704009-10704059	HEK293	kidney:	embryo
21	chr12:10704318-10704368	HRPEpiC	eye:	n/a
22	chr12:10704009-10704059	Hela-S3	cervix:	n/a
23	chr12:10704318-10704368	Jurkat	blood:	n/a
24	chr12:10704318-10704368	BE2_C	brain:	n/a
25	chr12:10704074-10704124	SAEC	small airway:	n/a
26	chr12:10704009-10704059	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:10704009-10704059	SK-N-MC	brain:	n/a
28	chr12:10704074-10704124	RPTEC	kidney:	n/a
29	chr12:10704318-10704368	HCF	heart:	n/a
30	chr12:10704009-10704059	BE2_C	brain:	n/a
31	chr12:10704074-10704124	H1-hESC	embryonic stem cell:	embryo
32	chr12:10704009-10704059	HepG2	liver:	n/a
33	chr12:10704074-10704124	A549	lung:	n/a
34	chr12:10704009-10704059	SK-N-SH_RA	brain:	n/a
35	chr12:10704318-10704368	H1-hESC	embryonic stem cell:	embryo
36	chr12:10704074-10704124	GM12878	blood:	n/a
37	chr12:10704074-10704124	AG09319	gingival:	n/a
38	chr12:10704318-10704368	Hepatocyte	liver:	n/a
39	chr12:10704318-10704368	T-47D	breast:	n/a
40	chr12:10704009-10704059	HIPEpiC	eye:	n/a
41	chr12:10704318-10704368	HUVEC	blood vessel:	n/a
42	chr12:10704074-10704124	HNPCEpiC	eye:	n/a
43	chr12:10704009-10704059	PANC-1	pancreas:	n/a
44	chr12:10704074-10704124	AG04449	skin:	fetal
45	chr12:10704009-10704059	HL-60	blood:	n/a
46	chr12:10704074-10704124	Caco-2	colon:	n/a
47	chr12:10704074-10704124	ovcar-3	ovarian:	n/a
48	chr12:10704318-10704368	PrEC	prostate:	n/a
49	chr12:10704318-10704368	NHDF-neo	bronchial:	n/a
50	chr12:10704009-10704059	HAEpiC	amniotic membrane:	n/a

No data

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

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

No data

Variant related genes	Relation type
ENSG00000256039	TF binding region
SLC25A39P2	TF binding region
ENSG00000256039	CpG island
SLC25A39P2	CpG island

Extended variants
information (count: 78 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533288014	chr12:10702802-10702803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372134489	chr12:10702837-10702838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111782036	chr12:10702844-10702845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190447471	chr12:10702873-10702874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576112362	chr12:10702886-10702887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181442854	chr12:10703070-10703071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565456714	chr12:10703071-10703072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59672348	chr12:10703072-10703073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398076416	chr12:10703079-10703080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397952815	chr12:10703080-10703081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201391984	chr12:10703082-10703083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60505309	chr12:10703084-10703085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142336219	chr12:10703099-10703100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149780453	chr12:10703137-10703138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67968014	chr12:10703156-10703157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373507393	chr12:10703159-10703160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557486716	chr12:10703174-10703175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571197144	chr12:10703189-10703190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186544431	chr12:10703197-10703198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553893018	chr12:10703199-10703200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7296695	chr12:10703211-10703212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190802012	chr12:10703218-10703219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57112915	chr12:10703239-10703240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73054450	chr12:10703240-10703241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575863367	chr12:10703269-10703270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376913495	chr12:10703290-10703291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115245405	chr12:10703291-10703292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182637985	chr12:10703298-10703299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145748543	chr12:10703346-10703347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540413416	chr12:10703363-10703364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200180161	chr12:10703380-10703381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148682688	chr12:10703381-10703382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376903632	chr12:10703383-10703384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560211229	chr12:10703399-10703400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187949364	chr12:10703406-10703407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16915318	chr12:10703451-10703452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs114868030	chr12:10703454-10703455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531532500	chr12:10703478-10703479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551634070	chr12:10703555-10703556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571190789	chr12:10703656-10703657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533777887	chr12:10703662-10703663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553754216	chr12:10703676-10703677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567375707	chr12:10703705-10703706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536315480	chr12:10703738-10703739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143650100	chr12:10703790-10703791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200634187	chr12:10703814-10703815	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs398044270	chr12:10703816-10703817	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs398018398	chr12:10703817-10703818	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs67755400	chr12:10703861-10703862	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190910265	chr12:10703949-10703950	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 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
2	chr12:10702600-10703000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:10704000-10704400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:10704000-10704400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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