Variant report

Variant	nsv559137
Chromosome Location	chr12:60858680-60947395
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:60499782..60500621-chr12:60887467..60888321,3	MCF-7	breast:
2	chr12:60868652..60870460-chr12:60874035..60876045,2	MCF-7	breast:
3	chr12:60860157..60861729-chr12:60880266..60882965,2	K562	blood:
4	chr12:60891633..60893813-chr12:60898441..60900083,2	MCF-7	breast:
5	chr12:60860993..60863300-chr12:60865584..60868066,2	K562	blood:
6	chr12:60891633..60893813-chr12:60898441..60900083,2	MCF-7	breast:
7	chr12:60868652..60870460-chr12:60874035..60876045,2	MCF-7	breast:
8	chr12:60860993..60863300-chr12:60865584..60868066,2	K562	blood:
9	chr12:60650536..60651477-chr12:60887538..60888726,4	MCF-7	breast:
10	chr12:60535718..60536628-chr12:60888012..60888523,2	MCF-7	breast:
11	chr12:60860157..60861729-chr12:60880266..60882965,2	K562	blood:
12	chr12:60894975..60895756-chr12:62387590..62388098,2	MCF-7	breast:
13	chr12:60895016..60895740-chr12:61932467..61933383,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-272B17.2.1-6	chr12:60940686-60940908	expReg_chr12_6157_-

No data

Extended variants
information (count: 1181 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1181 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142634686	chr12:60868620-60868621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537211274	chr12:60868622-60868623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144965344	chr12:60868630-60868631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147767007	chr12:60868631-60868632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118055951	chr12:60868654-60868655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537852802	chr12:60868662-60868663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148830934	chr12:60868717-60868718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534641494	chr12:60868757-60868758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554533191	chr12:60868855-60868856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117675057	chr12:60868873-60868874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115265746	chr12:60868892-60868893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563140051	chr12:60868909-60868910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186933469	chr12:60868961-60868962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190484236	chr12:60868973-60868974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545879221	chr12:60869002-60869003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559451384	chr12:60869058-60869059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78121701	chr12:60869081-60869082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542220555	chr12:60869132-60869133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375076386	chr12:60869286-60869287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535595245	chr12:60869305-60869306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183391300	chr12:60869331-60869332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73127370	chr12:60869343-60869344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143482154	chr12:60869373-60869374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148011077	chr12:60869413-60869414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114953557	chr12:60869443-60869444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572886615	chr12:60869464-60869465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189910921	chr12:60869483-60869484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552280838	chr12:60869495-60869496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116123220	chr12:60869520-60869521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577947856	chr12:60869521-60869522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59613671	chr12:60869569-60869570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568012635	chr12:60869610-60869611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140806252	chr12:60869613-60869614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182708450	chr12:60869657-60869658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370354159	chr12:60869658-60869659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530669054	chr12:60869689-60869690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554024599	chr12:60869704-60869705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74819166	chr12:60869808-60869809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573933204	chr12:60869845-60869846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372828807	chr12:60869879-60869880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77209824	chr12:60869885-60869886	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78162796	chr12:60869891-60869892	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144775886	chr12:60869938-60869939	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7965846	chr12:60869965-60869966	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530848428	chr12:60869982-60869983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542780763	chr12:60870029-60870030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6581320	chr12:60870034-60870035	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370199136	chr12:60870038-60870039	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546503596	chr12:60870100-60870101	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372171994	chr12:60870108-60870109	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60868600-60870600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:60868800-60869800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:60869000-60870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:60869000-60870600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:60869200-60870200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:60869200-60870200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:60869400-60870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:60869600-60870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:60869800-60870200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:60870200-60870600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:60872400-60887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:60877600-60878000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:60877800-60878200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:60881600-60882000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:60882000-60882200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:60882000-60882400	Enhancers	Fetal Intestine Large	intestine
17	chr12:60887800-60888000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:60892000-60896000	Enhancers	Fetal Heart	heart
19	chr12:60892600-60893000	Enhancers	Hela-S3	cervix
20	chr12:60892600-60893400	Enhancers	HUVEC	blood vessel
21	chr12:60892800-60893200	Enhancers	Left Ventricle	heart
22	chr12:60893400-60893800	Weak transcription	HUVEC	blood vessel
23	chr12:60893800-60894000	Enhancers	HUVEC	blood vessel
24	chr12:60894000-60895000	Weak transcription	HUVEC	blood vessel
25	chr12:60895000-60895400	Enhancers	Aorta	Aorta
26	chr12:60895000-60895400	Enhancers	Pancreas	Pancrea
27	chr12:60895000-60895400	Enhancers	HUVEC	blood vessel
28	chr12:60895200-60896000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:60895400-60896000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:60912000-60915800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:60915200-60916400	Enhancers	Brain Germinal Matrix	brain
32	chr12:60915800-60916200	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:60915800-60916200	Enhancers	Brain Substantia Nigra	brain
34	chr12:60915800-60916400	Enhancers	Brain Anterior Caudate	brain
35	chr12:60915800-60917200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:60915800-60917200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:60928600-60929800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:60928600-60929800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:60929800-60933200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:60933200-60933800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:60933200-60933800	Active TSS	Fetal Lung	lung
42	chr12:60933200-60934000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:60933400-60933800	Active TSS	Brain Anterior Caudate	brain
44	chr12:60933400-60933800	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:60933400-60933800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:60933400-60933800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:60933400-60933800	Active TSS	Ovary	ovary
48	chr12:60933400-60933800	Active TSS	Stomach Smooth Muscle	stomach
49	chr12:60933400-60934000	Active TSS	Duodenum Smooth Muscle	Duodenum

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