Variant report

Variant	esv2421910
Chromosome Location	chr12:83240212-83243773
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	chr12:83217595..83219662-chr12:83240965..83242554,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55893518	chr12:83240212-83240213	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577594685	chr12:83240326-83240327	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538949036	chr12:83240413-83240414	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143823946	chr12:83240427-83240428	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181715955	chr12:83240453-83240454	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374797081	chr12:83240457-83240458	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544970082	chr12:83240460-83240461	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542815208	chr12:83240484-83240485	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561005479	chr12:83240567-83240568	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570309566	chr12:83240583-83240584	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369829018	chr12:83240608-83240609	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556902091	chr12:83240611-83240612	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112458849	chr12:83240637-83240638	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565110513	chr12:83240643-83240644	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532571595	chr12:83240678-83240679	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185834909	chr12:83240682-83240683	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74552277	chr12:83240687-83240688	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140803479	chr12:83240718-83240719	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80099035	chr12:83240719-83240720	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567327772	chr12:83240747-83240748	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191675032	chr12:83240774-83240775	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531286941	chr12:83240815-83240816	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549883475	chr12:83240901-83240902	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571146494	chr12:83240906-83240907	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538292193	chr12:83240963-83240964	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553997975	chr12:83240976-83240977	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559984924	chr12:83240977-83240978	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566041384	chr12:83241042-83241043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536411427	chr12:83241095-83241096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554760701	chr12:83241112-83241113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576603497	chr12:83241128-83241129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149789992	chr12:83241149-83241150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559057523	chr12:83241233-83241234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577117891	chr12:83241274-83241275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144745627	chr12:83241381-83241382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560456215	chr12:83241416-83241417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148548293	chr12:83241490-83241491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142928944	chr12:83241491-83241492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182138625	chr12:83241516-83241517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146633398	chr12:83241520-83241521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34537231	chr12:83241546-83241547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531576276	chr12:83241591-83241592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549606554	chr12:83241624-83241625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571320988	chr12:83241651-83241652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187263669	chr12:83241659-83241660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375436716	chr12:83241689-83241690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141475672	chr12:83241695-83241696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566002052	chr12:83241720-83241721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536523470	chr12:83241727-83241728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77871746	chr12:83241760-83241761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83212400-83257000	Weak transcription	Gastric	stomach
5	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83228000-83241600	Weak transcription	Fetal Kidney	kidney
7	chr12:83229600-83252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:83232400-83242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:83232800-83243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:83233000-83242400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:83234000-83249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:83234600-83241800	Weak transcription	Stomach Mucosa	stomach
13	chr12:83236000-83249000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:83236000-83249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:83236000-83250800	Weak transcription	Fetal Lung	lung
16	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:83236200-83253200	Weak transcription	Fetal Brain Male	brain
18	chr12:83236800-83242400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:83236800-83242600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:83236800-83242600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:83236800-83242600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:83236800-83242800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:83236800-83245200	Weak transcription	Brain Substantia Nigra	brain
24	chr12:83238200-83246400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:83238600-83240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:83239200-83241000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:83239600-83240600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:83239800-83240400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:83240000-83241200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:83240000-83250800	Weak transcription	Fetal Stomach	stomach
31	chr12:83240200-83240400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:83240200-83240800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:83240400-83242400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:83240600-83240800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:83240600-83240800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:83240600-83242000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:83240800-83241000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:83240800-83242600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:83240800-83245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:83241000-83242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:83241000-83242600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:83241200-83242400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:83241400-83242600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:83241800-83242200	Enhancers	Stomach Mucosa	stomach
45	chr12:83242000-83242800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:83242000-83244400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:83242000-83244400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:83242200-83244400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:83242200-83244400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach

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