Variant report

Variant	esv3459513
Chromosome Location	chr2:30615052-30627922
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30609954..30612791-chr2:30617529..30620270,2	K562	blood:
2	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:
3	chr2:30622154..30624895-chr2:30633768..30635407,2	K562	blood:
4	chr2:30617042..30618838-chr2:30884589..30886329,2	K562	blood:
5	chr2:30617933..30621462-chr2:30622789..30624514,3	K562	blood:
6	chr2:30623807..30625999-chr2:30630909..30632513,2	K562	blood:
7	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:
8	chr2:30617933..30621462-chr2:30622789..30624514,3	K562	blood:
9	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:
10	chr2:30618142..30620784-chr2:30680796..30682766,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPN13-2	chr2:30626809-30627001	XLOC_002041

No data

Variant related genes	Relation type
PUM2	miRNA target sites

Extended variants
information (count: 536 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572221748	chr2:30615089-30615090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565356010	chr2:30615110-30615111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541429316	chr2:30615210-30615211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182652993	chr2:30615217-30615218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530243899	chr2:30615259-30615260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372883138	chr2:30615297-30615298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550293180	chr2:30615334-30615335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114767845	chr2:30615347-30615348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112726140	chr2:30615348-30615349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374661366	chr2:30615357-30615358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187276383	chr2:30615393-30615394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190927486	chr2:30615398-30615399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371190473	chr2:30615412-30615413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566383881	chr2:30615514-30615515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528765895	chr2:30615530-30615531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557018079	chr2:30615556-30615557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143464844	chr2:30615573-30615574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547397947	chr2:30615588-30615589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566921313	chr2:30615593-30615594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535983451	chr2:30615657-30615658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113637267	chr2:30615780-30615781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150868516	chr2:30615811-30615812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569367666	chr2:30615838-30615839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545923606	chr2:30615847-30615848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183134746	chr2:30615848-30615849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564246574	chr2:30615874-30615875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138263535	chr2:30615893-30615894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144022895	chr2:30615906-30615907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555047425	chr2:30615947-30615948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574875240	chr2:30615948-30615949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569401123	chr2:30615961-30615962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537297551	chr2:30616016-30616017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112698883	chr2:30616039-30616040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543797123	chr2:30616055-30616056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147323299	chr2:30616068-30616069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532472552	chr2:30616073-30616074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141030579	chr2:30616164-30616165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559671019	chr2:30616165-30616166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187468456	chr2:30616201-30616202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34086128	chr2:30616207-30616208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144151195	chr2:30616237-30616238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35969632	chr2:30616286-30616287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568375041	chr2:30616308-30616309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191911740	chr2:30616309-30616310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549339004	chr2:30616331-30616332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147357765	chr2:30616332-30616333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570586032	chr2:30616351-30616352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538337386	chr2:30616353-30616354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77900489	chr2:30616378-30616379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57642736	chr2:30616389-30616390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30614800-30615200	Enhancers	Ovary	ovary
2	chr2:30615200-30618800	Weak transcription	Ovary	ovary
3	chr2:30616200-30617600	Enhancers	Fetal Intestine Small	intestine
4	chr2:30616400-30616600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:30616400-30616800	Enhancers	HepG2	liver
6	chr2:30616600-30617400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:30616600-30617400	Enhancers	Fetal Heart	heart
8	chr2:30616600-30617400	Enhancers	Fetal Lung	lung
9	chr2:30616800-30617400	Enhancers	Fetal Intestine Large	intestine
10	chr2:30617000-30617200	Enhancers	Left Ventricle	heart
11	chr2:30617200-30619400	Weak transcription	Left Ventricle	heart
12	chr2:30617400-30618400	Weak transcription	Fetal Heart	heart
13	chr2:30617400-30621000	Weak transcription	Fetal Lung	lung
14	chr2:30618400-30619000	Enhancers	Fetal Heart	heart
15	chr2:30618800-30621800	Enhancers	Ovary	ovary
16	chr2:30619000-30624800	Weak transcription	Fetal Heart	heart
17	chr2:30619400-30619600	Enhancers	Right Ventricle	heart
18	chr2:30619400-30619800	Enhancers	Left Ventricle	heart
19	chr2:30619400-30619800	Enhancers	A549	lung
20	chr2:30619400-30620000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:30619400-30621200	Enhancers	Pancreas	Pancrea
22	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
23	chr2:30619600-30623600	Weak transcription	Right Ventricle	heart
24	chr2:30619800-30621000	Weak transcription	Left Ventricle	heart
25	chr2:30619800-30621600	Weak transcription	A549	lung
26	chr2:30620000-30621000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:30620200-30621400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:30620400-30620600	Enhancers	Right Atrium	heart
29	chr2:30620400-30621400	Enhancers	Aorta	Aorta
30	chr2:30620600-30624000	Weak transcription	Right Atrium	heart
31	chr2:30620600-30625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:30621000-30621200	Enhancers	Left Ventricle	heart
33	chr2:30621000-30621600	Enhancers	Fetal Lung	lung
34	chr2:30621000-30621600	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:30621000-30621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:30621000-30621800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:30621000-30621800	Enhancers	NHDF-Ad	bronchial
38	chr2:30621200-30621600	Weak transcription	Left Ventricle	heart
39	chr2:30621200-30621800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:30621200-30621800	Enhancers	NHEK	skin
41	chr2:30621200-30622800	Weak transcription	Pancreas	Pancrea
42	chr2:30621400-30621800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:30621400-30623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
45	chr2:30621600-30621800	Enhancers	Left Ventricle	heart
46	chr2:30621600-30621800	Enhancers	A549	lung
47	chr2:30621600-30622800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:30621600-30626000	Weak transcription	Fetal Lung	lung
49	chr2:30621800-30626000	Weak transcription	Left Ventricle	heart
50	chr2:30621800-30626600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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