Variant report

Variant	esv2760225
Chromosome Location	chr12:58490832-58514112
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
2	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
3	chr12:58474355..58476950-chr12:58494069..58496822,2	MCF-7	breast:
4	chr12:58386891..58387425-chr12:58499275..58499786,2	MCF-7	breast:
5	chr12:58499355..58500140-chr12:58570317..58570835,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSP2-4	chr12:58491565-58491865	XLOC_010104
2	lnc-CTDSP2-4	chr12:58491564-58491865	NONHSAT029017
3	lnc-XRCC6BP1-6	chr12:58497690-58499718	NONHSAT029021
4	lnc-CTDSP2-4	chr12:58490532-58491796	NONHSAT029020
5	lnc-CTDSP2-4	chr12:58488697-58491796	ENSG00000264432.1

No data

Extended variants
information (count: 348 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:348 , 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	rs265580	chr12:58490832-58490833	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192055285	chr12:58490856-58490857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550025625	chr12:58490868-58490869	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115219813	chr12:58490900-58490901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73095865	chr12:58490914-58490915	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114055397	chr12:58490939-58490940	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114668858	chr12:58490964-58490965	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536362549	chr12:58491010-58491011	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs148475130	chr12:58491079-58491080	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs79725187	chr12:58491101-58491102	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538085061	chr12:58491102-58491103	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs76010233	chr12:58491118-58491119	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548735530	chr12:58491132-58491133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545002181	chr12:58491160-58491161	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs560119484	chr12:58491161-58491162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572171076	chr12:58491173-58491174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs370699980	chr12:58491225-58491226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs543126492	chr12:58491230-58491231	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561251321	chr12:58491284-58491285	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568784859	chr12:58491306-58491307	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531516364	chr12:58491307-58491308	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529740851	chr12:58491343-58491344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs368910595	chr12:58491344-58491345	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs73341945	chr12:58491394-58491395	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs539735609	chr12:58491404-58491405	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs141743786	chr12:58491455-58491456	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs375024152	chr12:58491472-58491473	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs532450815	chr12:58491544-58491545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs184500905	chr12:58491548-58491549	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs147182177	chr12:58491618-58491619	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs536325532	chr12:58491629-58491630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548246862	chr12:58491640-58491641	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs569685849	chr12:58491675-58491676	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs540242514	chr12:58491678-58491679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538427282	chr12:58491745-58491746	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs556528978	chr12:58491759-58491760	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs265581	chr12:58491772-58491773	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187544362	chr12:58491791-58491792	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs553720397	chr12:58491843-58491844	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs7973502	chr12:58491964-58491965	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140406271	chr12:58492086-58492087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs265582	chr12:58492111-58492112	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571691888	chr12:58492149-58492150	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144356582	chr12:58492155-58492156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7960648	chr12:58492204-58492205	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs554265644	chr12:58492267-58492268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532414008	chr12:58492341-58492342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547735850	chr12:58492346-58492347	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559713180	chr12:58492376-58492377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574400922	chr12:58492383-58492384	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58488400-58491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:58491800-58494200	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:58492800-58493400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:58496400-58496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:58496800-58497000	Enhancers	Pancreas	Pancrea
6	chr12:58496800-58497000	Enhancers	Right Ventricle	heart
7	chr12:58496800-58499800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:58497000-58497800	Weak transcription	Pancreas	Pancrea
9	chr12:58497200-58498400	Weak transcription	Right Ventricle	heart
10	chr12:58497600-58497800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:58497800-58498000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:58497800-58498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:58497800-58499200	Enhancers	Pancreas	Pancrea
14	chr12:58498000-58498400	Enhancers	Fetal Heart	heart
15	chr12:58498000-58498400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:58498200-58498400	Enhancers	Left Ventricle	heart
17	chr12:58498200-58498600	Enhancers	HSMMtube	muscle
18	chr12:58498200-58499000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:58498400-58498600	Enhancers	Right Ventricle	heart
20	chr12:58498400-58499000	Weak transcription	Left Ventricle	heart
21	chr12:58498400-58499000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:58498400-58499800	Enhancers	Psoas Muscle	Psoas
23	chr12:58498600-58499200	Weak transcription	Right Ventricle	heart
24	chr12:58499000-58499600	Enhancers	Left Ventricle	heart
25	chr12:58499000-58499600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:58499000-58499600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:58499400-58499600	Enhancers	Right Ventricle	heart
28	chr12:58499600-58499800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:58499600-58500800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:58499800-58500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:58500600-58501200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:58510800-58511400	Enhancers	Dnd41	blood
33	chr12:58511400-58511800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:58513000-58514000	Enhancers	Ovary	ovary
35	chr12:58514000-58514200	Enhancers	Psoas Muscle	Psoas
36	chr12:58514000-58517000	Weak transcription	Ovary	ovary

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