Variant report

Variant	nsv973949
Chromosome Location	chr12:63689599-63696178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533352276	chr12:63689601-63689602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139439559	chr12:63689625-63689626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575437960	chr12:63689668-63689669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543828841	chr12:63689743-63689744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61934695	chr12:63689745-63689746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563315870	chr12:63689770-63689771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117889840	chr12:63689857-63689858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552214751	chr12:63689966-63689967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559524908	chr12:63690073-63690074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528730271	chr12:63690077-63690078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1146103	chr12:63690113-63690114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187668634	chr12:63690134-63690135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537321218	chr12:63690180-63690181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556985230	chr12:63690238-63690239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118106581	chr12:63690264-63690265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371503447	chr12:63690269-63690270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539548348	chr12:63690324-63690325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550109570	chr12:63690438-63690439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145150123	chr12:63690557-63690558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572968583	chr12:63690574-63690575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535679587	chr12:63690584-63690585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192769176	chr12:63690603-63690604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575519658	chr12:63690638-63690639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61934696	chr12:63690651-63690652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563354352	chr12:63690652-63690653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147159464	chr12:63690657-63690658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373819853	chr12:63690690-63690691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185492884	chr12:63690696-63690697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528563379	chr12:63690721-63690722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542437014	chr12:63690797-63690798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139572925	chr12:63690814-63690815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531250627	chr12:63690841-63690842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551254912	chr12:63690980-63690981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570462930	chr12:63691027-63691028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149709228	chr12:63691034-63691035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145558974	chr12:63691123-63691124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369557053	chr12:63691135-63691136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1146104	chr12:63691137-63691138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148914479	chr12:63691198-63691199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555554631	chr12:63691235-63691236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1146105	chr12:63691240-63691241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538148832	chr12:63691257-63691258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190801149	chr12:63691285-63691286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373815233	chr12:63691299-63691300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376029611	chr12:63691465-63691466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555745685	chr12:63691471-63691472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545828392	chr12:63691472-63691473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181594311	chr12:63691489-63691490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575886186	chr12:63691515-63691516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144137037	chr12:63691540-63691541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	17899364	CNVD
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63680000-63689600	Enhancers	Dnd41	blood
2	chr12:63687000-63691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:63687600-63696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:63688200-63692200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:63688400-63695000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:63688800-63692000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:63689200-63695000	Weak transcription	HMEC	breast
8	chr12:63689400-63689600	Enhancers	Fetal Stomach	stomach
9	chr12:63689400-63691200	Weak transcription	A549	lung
10	chr12:63689400-63691600	Weak transcription	Fetal Kidney	kidney
11	chr12:63691200-63692000	Enhancers	A549	lung
12	chr12:63691600-63692800	Enhancers	Fetal Kidney	kidney
13	chr12:63691800-63692600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:63692000-63692400	Flanking Active TSS	A549	lung
15	chr12:63692000-63692800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:63692200-63692600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:63692400-63692800	Enhancers	A549	lung
18	chr12:63692600-63695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:63692600-63695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:63692800-63695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:63692800-63696200	Weak transcription	Fetal Kidney	kidney
22	chr12:63695000-63696800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:63695000-63696800	Enhancers	HMEC	breast
24	chr12:63695200-63695600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:63695200-63696000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:63695200-63696000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:63695200-63696000	Enhancers	Dnd41	blood
28	chr12:63695200-63697200	Enhancers	NH-A	brain
29	chr12:63695400-63696800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:63695600-63696800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:63695600-63697800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:63695800-63696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:63695800-63696200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:63695800-63696200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:63695800-63696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:63695800-63696600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:63695800-63696600	Enhancers	NHDF-Ad	bronchial
38	chr12:63695800-63697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:63695800-63697200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:63696000-63696200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:63696000-63696600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:63696000-63696600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:63696000-63696600	Enhancers	Aorta	Aorta
44	chr12:63696000-63696600	Enhancers	Fetal Thymus	thymus
45	chr12:63696000-63696800	Bivalent Enhancer	HUVEC	blood vessel
46	chr12:63696000-63697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:63696000-63697400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:63696000-63697600	Flanking Active TSS	Dnd41	blood

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