Variant report

Variant	esv999821
Chromosome Location	chr12:10742119-10749949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10744830..10746958-chr12:10764492..10766186,2	K562	blood:
2	chr12:10742012..10743603-chr12:10874316..10876559,2	MCF-7	breast:
3	chr12:10747176..10749785-chr12:10752073..10754604,2	K562	blood:
4	chr12:10740149..10742078-chr12:10745829..10747842,3	K562	blood:
5	chr12:10738663..10741560-chr12:10743717..10745225,2	MCF-7	breast:
6	chr12:10746326..10750711-chr12:10750860..10754604,4	K562	blood:
7	chr12:10743385..10746001-chr12:10752818..10754982,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAGOHB-1	chr12:10744879-10744985	NR_028045
2	lnc-MAGOHB-1	chr12:10741078-10742144	NONHSAT026890
3	lnc-MAGOHB-1	chr12:10744879-10744985	XLOC_010017
4	lnc-MAGOHB-1	chr12:10749491-10749580	XLOC_010017
5	lnc-MAGOHB-1	chr12:10746380-10746604	XLOC_010017
6	lnc-MAGOHB-1	chr12:10748290-10748526	NR_028045
7	lnc-EIF2S3L.1-3	chr12:10741745-10742144	XLOC_009663
8	lnc-MAGOHB-1	chr12:10741078-10742144	XLOC_010017
9	lnc-MAGOHB-1	chr12:10744879-10744985	NONHSAT026890
10	lnc-MAGOHB-1	chr12:10746380-10746604	NR_028045
11	lnc-MAGOHB-1	chr12:10749491-10749580	NR_028045
12	lnc-MAGOHB-1	chr12:10748290-10748526	XLOC_010017
13	lnc-MAGOHB-1	chr12:10741077-10742144	NR_028045
14	lnc-MAGOHB-1	chr12:10746380-10746604	NONHSAT026890

No data

Variant related genes	Relation type
ENSG00000256667	chromatin interactions
ENSG00000060138	chromatin interactions
ENSG00000111196	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73062479	chr12:10742135-10742136	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs191155556	chr12:10742208-10742209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76829216	chr12:10742276-10742277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535874526	chr12:10742337-10742338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555787277	chr12:10742351-10742352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2607899	chr12:10742357-10742358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78289468	chr12:10742373-10742374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs60367665	chr12:10742389-10742390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557902620	chr12:10742400-10742401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578120759	chr12:10742406-10742407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2607898	chr12:10742415-10742416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560384983	chr12:10742420-10742421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568320870	chr12:10742425-10742426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529434627	chr12:10742438-10742439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543031586	chr12:10742497-10742498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61913124	chr12:10742506-10742507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139724875	chr12:10742531-10742532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2607897	chr12:10742563-10742564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35898067	chr12:10742623-10742624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372266286	chr12:10742626-10742627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551724555	chr12:10742635-10742636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571436730	chr12:10742652-10742653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538794430	chr12:10742657-10742658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149797282	chr12:10742662-10742663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2682475	chr12:10742738-10742739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114173962	chr12:10742777-10742778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183325648	chr12:10742809-10742810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7955078	chr12:10742831-10742832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs56801111	chr12:10742843-10742844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs569338491	chr12:10742874-10742875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538113797	chr12:10742892-10742893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2607896	chr12:10742896-10742897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11611202	chr12:10742918-10742919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573723070	chr12:10742925-10742926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140992064	chr12:10742929-10742930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7967967	chr12:10742934-10742935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146747305	chr12:10742941-10742942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140421229	chr12:10742947-10742948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112076839	chr12:10742950-10742951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562839968	chr12:10742974-10742975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147465361	chr12:10742978-10742979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531757126	chr12:10743005-10743006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545286021	chr12:10743043-10743044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565037877	chr12:10743127-10743128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59681074	chr12:10743198-10743199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547266865	chr12:10743201-10743202	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561172242	chr12:10743215-10743216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529720385	chr12:10743221-10743222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549481089	chr12:10743234-10743235	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143421516	chr12:10743267-10743268	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10743600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:10725800-10743200	Weak transcription	NHDF-Ad	bronchial
4	chr12:10725800-10753400	Weak transcription	Osteobl	bone
5	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:10726400-10743200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:10726400-10759800	Weak transcription	NHLF	lung
8	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:10730600-10764800	Weak transcription	Lung	lung
11	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
12	chr12:10730800-10758400	Weak transcription	NHEK	skin
13	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:10731600-10742400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
18	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
19	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
22	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:10732400-10743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
27	chr12:10732600-10759600	Weak transcription	HMEC	breast
28	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:10733400-10743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:10733400-10746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:10733400-10748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
33	chr12:10733600-10744200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:10733800-10743800	Weak transcription	Adipose Nuclei	Adipose
36	chr12:10733800-10753400	Weak transcription	Dnd41	blood
37	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
38	chr12:10734000-10742600	Weak transcription	Ovary	ovary
39	chr12:10734000-10747600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:10734000-10753200	Weak transcription	Liver	Liver
41	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
42	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
44	chr12:10734200-10743200	Weak transcription	Primary T cells from cord blood	blood
45	chr12:10734200-10743200	Weak transcription	A549	lung
46	chr12:10734200-10743200	Weak transcription	HSMM	muscle
47	chr12:10734200-10743800	Weak transcription	Aorta	Aorta
48	chr12:10734200-10743800	Weak transcription	GM12878-XiMat	blood
49	chr12:10734200-10749200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:10734200-10755200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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