Variant report

Variant	nsv1036699
Chromosome Location	chr12:63836582-63920831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63893978..63896181-chr12:64171241..64172887,2	K562	blood:
2	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
3	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:
4	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:
5	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
6	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:
7	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:

Extended variants
information (count: 884 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554501980	chr12:63839008-63839009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113249143	chr12:63839030-63839031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574109637	chr12:63839070-63839071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377051981	chr12:63839079-63839080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374928339	chr12:63839130-63839131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567917835	chr12:63839135-63839136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7954967	chr12:63839168-63839169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371926432	chr12:63839171-63839172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113361731	chr12:63839258-63839259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562911792	chr12:63839278-63839279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564901235	chr12:63839291-63839292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551483814	chr12:63839299-63839300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536633125	chr12:63839300-63839301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571376114	chr12:63839329-63839330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527766844	chr12:63839342-63839343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73323627	chr12:63839359-63839360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567746991	chr12:63839383-63839384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536960227	chr12:63839386-63839387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556989	chr12:63839417-63839418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569655364	chr12:63839643-63839644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576433269	chr12:63839665-63839666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs878450	chr12:63839669-63839670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564087286	chr12:63839702-63839703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577409020	chr12:63839729-63839730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572198526	chr12:63839762-63839763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534704922	chr12:63839819-63839820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73323630	chr12:63839897-63839898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190220687	chr12:63839938-63839939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs693920	chr12:63839976-63839977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559996341	chr12:63839981-63839982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182608785	chr12:63840006-63840007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376704584	chr12:63840010-63840011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576401735	chr12:63840015-63840016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545038547	chr12:63840031-63840032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564918063	chr12:63840055-63840056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527818192	chr12:63840141-63840142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547443885	chr12:63840225-63840226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528870713	chr12:63840229-63840230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73323632	chr12:63840251-63840252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187485773	chr12:63840268-63840269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550464463	chr12:63840287-63840288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570288494	chr12:63840322-63840323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191078347	chr12:63840337-63840338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115502294	chr12:63840501-63840502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565669535	chr12:63840503-63840504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534718905	chr12:63840504-63840505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542229137	chr12:63840580-63840581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554659735	chr12:63840583-63840584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183657841	chr12:63840604-63840605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142629215	chr12:63840679-63840680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	16620391	CNVD
Autism	21865298	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63839000-63840000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:63839000-63840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63839200-63840200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:63840000-63840200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:63840000-63844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:63840200-63851200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:63840800-63844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:63844600-63845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:63844600-63845400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:63844800-63845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:63850400-63851000	Enhancers	HSMMtube	muscle
12	chr12:63851200-63853200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:63852600-63853600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:63853600-63855000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:63855000-63855400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:63872800-63873600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:63873200-63874400	Enhancers	Adipose Nuclei	Adipose
18	chr12:63873400-63874000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:63873600-63873800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:63873600-63874200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:63873800-63874200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:63873800-63874400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:63874000-63874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:63874200-63874400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:63874200-63874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:63875800-63877200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:63888400-63888600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:63888400-63888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63888800-63890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:63888800-63890200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:63889400-63890200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:63889600-63890000	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr12:63889600-63890200	Enhancers	Liver	Liver
34	chr12:63889600-63890200	Flanking Active TSS	A549	lung
35	chr12:63889800-63891000	Enhancers	Dnd41	blood
36	chr12:63890000-63891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:63890200-63890400	Enhancers	A549	lung
38	chr12:63890200-63891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:63907000-63907800	Enhancers	Brain Germinal Matrix	brain
40	chr12:63909000-63909200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:63909200-63910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:63910000-63910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:63915800-63916800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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