Variant report

Variant	esv1813740
Chromosome Location	chr12:10721485-10727408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:2165020..2165613-chr12:10723245..10724037,2	Hela-S3	cervix:
2	chr12:10722202..10724547-chr12:10764643..10766915,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-2	chr12:10725616-10725820	NONHSAT026888
2	lnc-EIF2S3L.1-2	chr12:10725616-10725820	FPKM1_group_5768_transcript_1
3	lnc-EIF2S3L.1-2	chr12:10725617-10725820	XLOC_009662

Variant related genes	Relation type
ENSG00000111196	chromatin interactions
E2F5	miRNA target sites

Extended variants
information (count: 242 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200906389	chr12:10721514-10721515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577553257	chr12:10721587-10721588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185731266	chr12:10721591-10721592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569520382	chr12:10721684-10721685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4763556	chr12:10721686-10721687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573160456	chr12:10721754-10721755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370871435	chr12:10721767-10721768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73058241	chr12:10721787-10721788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561605541	chr12:10721829-10721830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530713330	chr12:10721846-10721847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150445353	chr12:10721847-10721848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569626923	chr12:10721891-10721892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4763557	chr12:10721915-10721916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533010318	chr12:10721961-10721962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189204321	chr12:10722048-10722049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181600845	chr12:10722102-10722103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138274169	chr12:10722163-10722164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78141846	chr12:10722176-10722177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185965064	chr12:10722179-10722180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537731678	chr12:10722197-10722198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557720275	chr12:10722216-10722217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113969302	chr12:10722234-10722235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77667704	chr12:10722266-10722267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534090908	chr12:10722273-10722274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539663731	chr12:10722324-10722325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190430285	chr12:10722358-10722359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374479868	chr12:10722421-10722422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573264232	chr12:10722425-10722426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141375859	chr12:10722442-10722443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs59257057	chr12:10722449-10722450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181560807	chr12:10722509-10722510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544082199	chr12:10722517-10722518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34926964	chr12:10722543-10722544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536962128	chr12:10722550-10722551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7978850	chr12:10722585-10722586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs571016022	chr12:10722623-10722624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186333094	chr12:10722625-10722626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560147839	chr12:10722645-10722646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528975576	chr12:10722668-10722669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549138113	chr12:10722676-10722677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568854020	chr12:10722733-10722734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531360860	chr12:10722806-10722807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551265219	chr12:10722922-10722923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571071016	chr12:10722923-10722924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74972045	chr12:10722938-10722939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10772317	chr12:10722947-10722948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545445834	chr12:10722970-10722971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145158728	chr12:10722995-10722996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139035929	chr12:10723025-10723026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191035640	chr12:10723095-10723096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10710800-10724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10714000-10733200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:10716800-10723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:10717800-10721600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:10722400-10722600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:10722400-10722600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:10722600-10723600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:10722600-10723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:10722800-10723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:10723000-10723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:10723200-10723400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:10723600-10723800	Enhancers	A549	lung
13	chr12:10723600-10724600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:10723600-10725800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:10723600-10725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:10723800-10724000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:10723800-10724000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:10723800-10724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:10723800-10724000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:10723800-10724000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:10723800-10724800	Weak transcription	A549	lung
22	chr12:10724000-10724400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:10724000-10724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:10724000-10724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:10724000-10724800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:10724000-10733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:10724000-10733400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:10724200-10724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:10724400-10725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:10724600-10725600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:10724600-10726200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:10724800-10725000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:10724800-10725000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:10724800-10725000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:10724800-10725000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:10724800-10725200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:10724800-10725200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:10724800-10725200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:10724800-10725200	Flanking Active TSS	A549	lung
40	chr12:10724800-10725600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:10724800-10725600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:10724800-10725800	Enhancers	Hela-S3	cervix
43	chr12:10724800-10725800	Enhancers	NHDF-Ad	bronchial
44	chr12:10724800-10725800	Enhancers	Osteobl	bone
45	chr12:10724800-10726800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:10725000-10725400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:10725000-10725600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:10725000-10726200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:10725000-10733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:10725200-10725400	Enhancers	NHLF	lung

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