Variant report

Variant	nsv976037
Chromosome Location	chr12:26228360-26244803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26244568..26246194-chr12:26248819..26250722,2	MCF-7	breast:
2	chr12:26240929..26244393-chr12:26265760..26268742,3	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RASSF8	hsa-miR-9-5p	chr12:26232533-26232555

Extended variants
information (count: 651 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144443962	chr12:26228369-26228370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569312779	chr12:26228410-26228411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539497028	chr12:26228429-26228430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558124771	chr12:26228488-26228489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139738163	chr12:26228531-26228532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534226828	chr12:26228581-26228582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555614949	chr12:26228582-26228583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145305963	chr12:26228585-26228586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544375010	chr12:26228591-26228592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556824700	chr12:26228657-26228658	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575286880	chr12:26228726-26228727	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147650843	chr12:26228785-26228786	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2729626	chr12:26228819-26228820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs528063908	chr12:26228865-26228866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540548151	chr12:26228879-26228880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4963646	chr12:26228883-26228884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529129697	chr12:26229002-26229003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114358856	chr12:26229017-26229018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142192826	chr12:26229024-26229025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71435688	chr12:26229039-26229040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71435689	chr12:26229051-26229052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533478452	chr12:26229055-26229056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551539659	chr12:26229063-26229064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554920777	chr12:26229077-26229078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74073618	chr12:26229124-26229125	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542509116	chr12:26229159-26229160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569817249	chr12:26229193-26229194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201968470	chr12:26229211-26229212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201968467	chr12:26229219-26229220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549291828	chr12:26229266-26229267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10771257	chr12:26229279-26229280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140994091	chr12:26229310-26229311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556723878	chr12:26229341-26229342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183006780	chr12:26229360-26229361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150180255	chr12:26229363-26229364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368658937	chr12:26229393-26229394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185437197	chr12:26229410-26229411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12369247	chr12:26229471-26229472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189248261	chr12:26229490-26229491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71435690	chr12:26229534-26229535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540211990	chr12:26229542-26229543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562009243	chr12:26229570-26229571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573975111	chr12:26229640-26229641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544138397	chr12:26229645-26229646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562708536	chr12:26229657-26229658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193008331	chr12:26229677-26229678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545939823	chr12:26229705-26229706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556637672	chr12:26229730-26229731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140698001	chr12:26229768-26229769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560200938	chr12:26229894-26229895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	17133270	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
3	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
6	chr12:26206800-26229600	Weak transcription	Ovary	ovary
7	chr12:26206800-26229800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:26209600-26230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:26211800-26230800	Weak transcription	Fetal Lung	lung
12	chr12:26215200-26230200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:26215800-26230800	Weak transcription	A549	lung
14	chr12:26216000-26228800	Weak transcription	HSMM	muscle
15	chr12:26216000-26229200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:26216000-26230400	Weak transcription	Psoas Muscle	Psoas
17	chr12:26216000-26230600	Weak transcription	HMEC	breast
18	chr12:26216000-26230800	Weak transcription	NHLF	lung
19	chr12:26216000-26231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:26216200-26230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:26216200-26231000	Weak transcription	NH-A	brain
22	chr12:26221800-26230800	Weak transcription	Fetal Stomach	stomach
23	chr12:26221800-26234000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:26222000-26230800	Weak transcription	NHEK	skin
25	chr12:26222000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:26222400-26230200	Weak transcription	HUVEC	blood vessel
27	chr12:26222400-26230400	Weak transcription	Left Ventricle	heart
28	chr12:26222400-26234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:26222800-26245800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:26223200-26230800	Weak transcription	Osteobl	bone
31	chr12:26223400-26230600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:26224000-26228400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:26224000-26230800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:26224000-26234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:26226200-26230800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:26227600-26228400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:26227600-26229000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:26228000-26229000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:26228000-26231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:26228200-26228800	Strong transcription	NHDF-Ad	bronchial
41	chr12:26228400-26229000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:26228400-26230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:26228600-26228800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:26228600-26229000	ZNF genes & repeats	Aorta	Aorta
45	chr12:26228800-26229000	ZNF genes & repeats	HSMM	muscle
46	chr12:26228800-26230600	Weak transcription	NHDF-Ad	bronchial
47	chr12:26229000-26229400	Weak transcription	HSMM	muscle
48	chr12:26229000-26233600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:26229000-26234000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:26229000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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