Variant report

Variant	esv2829973
Chromosome Location	chr12:62078770-62115165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1010 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549709640	chr12:62080659-62080660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560761652	chr12:62080667-62080668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117939023	chr12:62080674-62080675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187383656	chr12:62080677-62080678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193054207	chr12:62080814-62080815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142766688	chr12:62080836-62080837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35763053	chr12:62080859-62080860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552325291	chr12:62080874-62080875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559624079	chr12:62080890-62080891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185624537	chr12:62080917-62080918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188999950	chr12:62080964-62080965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568412188	chr12:62080995-62080996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2063063	chr12:62080996-62080997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550809761	chr12:62081006-62081007	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377336585	chr12:62081030-62081031	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570926659	chr12:62081032-62081033	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538837714	chr12:62081038-62081039	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532990787	chr12:62081065-62081066	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536943061	chr12:62081069-62081070	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558742637	chr12:62081071-62081072	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572259929	chr12:62081076-62081077	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150639423	chr12:62081103-62081104	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554826462	chr12:62081118-62081119	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1506847	chr12:62081170-62081171	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543371945	chr12:62081194-62081195	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563065366	chr12:62081214-62081215	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111608579	chr12:62081216-62081217	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139817769	chr12:62081241-62081242	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74983482	chr12:62081246-62081247	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77903470	chr12:62081248-62081249	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115326130	chr12:62081270-62081271	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548632890	chr12:62081319-62081320	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs74095600	chr12:62081362-62081363	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369846860	chr12:62081483-62081484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183775017	chr12:62081492-62081493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552913450	chr12:62081493-62081494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188117133	chr12:62081589-62081590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570965383	chr12:62081607-62081608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116300711	chr12:62081709-62081710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115500277	chr12:62081711-62081712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12313420	chr12:62081720-62081721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149820742	chr12:62081722-62081723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1506848	chr12:62081758-62081759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554582350	chr12:62081826-62081827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144800934	chr12:62081843-62081844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140106043	chr12:62081873-62081874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145618950	chr12:62081903-62081904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78280121	chr12:62081939-62081940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191782124	chr12:62081956-62081957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536014348	chr12:62081971-62081972	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62080600-62082000	Enhancers	Fetal Brain Male	brain
2	chr12:62080800-62081000	Enhancers	Fetal Brain Female	brain
3	chr12:62081000-62081400	Active TSS	Fetal Brain Female	brain
4	chr12:62081000-62081800	Enhancers	Adipose Nuclei	Adipose
5	chr12:62081400-62081800	Enhancers	Fetal Brain Female	brain
6	chr12:62087400-62090400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:62087600-62089000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:62088000-62089400	ZNF genes & repeats	Liver	Liver
9	chr12:62092200-62092400	ZNF genes & repeats	Aorta	Aorta
10	chr12:62092800-62094000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:62093000-62094200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:62093000-62095800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:62093200-62093600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:62093200-62094000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:62093200-62094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:62093200-62095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:62093400-62094000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:62093400-62094200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:62093400-62095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:62093600-62094200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:62093600-62094200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:62093800-62094400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:62094000-62094200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:62094000-62094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:62094000-62094400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:62094000-62102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:62094200-62094400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:62094200-62095400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:62094200-62095400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:62094200-62095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:62094200-62102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:62094400-62095000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:62094400-62095600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:62095000-62095600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:62095200-62095600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:62095400-62095600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:62095400-62095600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:62095400-62095600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:62095600-62095800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:62100400-62100600	Enhancers	HSMM	muscle
41	chr12:62102400-62104200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:62102400-62104200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:62104200-62114200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:62104200-62116800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:62107000-62108800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:62107000-62109000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:62107200-62107400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:62107400-62108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:62107800-62108000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:62107800-62108400	Enhancers	HUES48 Cell Line	embryonic stem cell

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