Variant report

Variant	nsv639
Chromosome Location	chr12:22110979-22153478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22106400..22108230-chr12:22109469..22111638,2	MCF-7	breast:
2	chr12:22135316..22137044-chr12:22142797..22145609,2	K562	blood:
3	chr12:22149251..22151149-chr12:22152167..22154573,2	K562	blood:
4	chr12:22149251..22151149-chr12:22152167..22154573,2	K562	blood:
5	chr12:21850626..21851532-chr12:22142558..22143243,3	MCF-7	breast:
6	chr12:22135316..22137044-chr12:22142797..22145609,2	K562	blood:
7	chr12:21850822..21851409-chr12:22142489..22143205,3	MCF-7	breast:

Extended variants
information (count: 772 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539501189	chr12:22114643-22114644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117954970	chr12:22114724-22114725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576501086	chr12:22114749-22114750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149789749	chr12:22114767-22114768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137945039	chr12:22114804-22114805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201926257	chr12:22114809-22114810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79667080	chr12:22114860-22114861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547772147	chr12:22114881-22114882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572750078	chr12:22114883-22114884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553459403	chr12:22114925-22114926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541764128	chr12:22114947-22114948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564632245	chr12:22114948-22114949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140038459	chr12:22114990-22114991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567232267	chr12:22115018-22115019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188930593	chr12:22115032-22115033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375943549	chr12:22115049-22115050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145567858	chr12:22115054-22115055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75586548	chr12:22115076-22115077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373054206	chr12:22115088-22115089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556729992	chr12:22115118-22115119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113674726	chr12:22115126-22115127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576251430	chr12:22115140-22115141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544469904	chr12:22115197-22115198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555178731	chr12:22115205-22115206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181345719	chr12:22115206-22115207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185608694	chr12:22115235-22115236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558936095	chr12:22115302-22115303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528328519	chr12:22115369-22115370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149230255	chr12:22115416-22115417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78576205	chr12:22115427-22115428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552971778	chr12:22115450-22115451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36123409	chr12:22115501-22115502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537241239	chr12:22115504-22115505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538788693	chr12:22115549-22115550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540937530	chr12:22115551-22115552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1914359	chr12:22115601-22115602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191156049	chr12:22115602-22115603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151151801	chr12:22115632-22115633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544555308	chr12:22115682-22115683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572484121	chr12:22115719-22115720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535290417	chr12:22115737-22115738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140107108	chr12:22115738-22115739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145316928	chr12:22115749-22115750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137937601	chr12:22115772-22115773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142518105	chr12:22115790-22115791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573643656	chr12:22115797-22115798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545840481	chr12:22115832-22115833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543236668	chr12:22115885-22115886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118150066	chr12:22115987-22115988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565940295	chr12:22124092-22124093	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22114600-22115400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:22115400-22116000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:22115400-22116000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:22124000-22124200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:22124000-22124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:22124000-22124800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:22124000-22125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:22124000-22125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:22124000-22125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:22124200-22124400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:22124200-22124600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:22124200-22124600	Enhancers	Fetal Kidney	kidney
13	chr12:22124200-22124800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:22124200-22124800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:22124200-22124800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:22124200-22124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:22124200-22125000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:22124200-22125000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:22124200-22125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:22124400-22124600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:22124400-22124800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:22124400-22126000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:22124600-22124800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:22124600-22125800	Weak transcription	Fetal Kidney	kidney
25	chr12:22124800-22125000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:22126200-22126400	Enhancers	Fetal Kidney	kidney
27	chr12:22127000-22127400	Enhancers	Fetal Stomach	stomach
28	chr12:22127400-22127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:22127400-22127800	Enhancers	Ovary	ovary
30	chr12:22127600-22129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:22127800-22128800	Weak transcription	Ovary	ovary
32	chr12:22129000-22129200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:22129000-22129200	Enhancers	Ovary	ovary
34	chr12:22131600-22131800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:22131800-22132000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:22131800-22132600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:22131800-22133000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:22132000-22134200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:22132200-22132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:22132400-22133400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:22132600-22132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:22132600-22132800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:22132800-22133000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:22132800-22139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:22133200-22134200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:22133800-22134800	Enhancers	NHDF-Ad	bronchial
47	chr12:22134600-22135000	Enhancers	Aorta	Aorta
48	chr12:22134600-22135000	Enhancers	Fetal Muscle Leg	muscle
49	chr12:22134600-22135200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:22135200-22136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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