Variant report

Variant	esv3442004
Chromosome Location	chr12:86514695-86599965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:86365669..86366250-chr12:86579981..86580554,2	MCF-7	breast:
2	chr12:86511451..86513760-chr12:86516670..86519004,2	K562	blood:
3	chr12:86559122..86560912-chr12:86565276..86567562,2	K562	blood:
4	chr12:86559122..86560912-chr12:86565276..86567562,2	K562	blood:
5	chr12:86543597..86545688-chr12:86546239..86548183,2	K562	blood:
6	chr12:86543597..86545688-chr12:86546239..86548183,2	K562	blood:

Extended variants
information (count: 1056 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531126505	chr12:86516805-86516806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76292043	chr12:86516890-86516891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564336178	chr12:86516891-86516892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528701043	chr12:86516907-86516908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191172734	chr12:86516912-86516913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145248780	chr12:86517087-86517088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150072908	chr12:86517094-86517095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367631399	chr12:86517134-86517135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371074988	chr12:86517141-86517142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550966713	chr12:86517167-86517168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542675564	chr12:86520617-86520618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183836700	chr12:86520636-86520637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531484548	chr12:86520652-86520653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562008523	chr12:86520684-86520685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543338047	chr12:86520708-86520709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141253416	chr12:86520773-86520774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371288633	chr12:86520775-86520776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547050705	chr12:86520778-86520779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565643637	chr12:86520792-86520793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529667692	chr12:86520807-86520808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199928096	chr12:86520835-86520836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557931338	chr12:86520866-86520867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116552808	chr12:86520910-86520911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533077251	chr12:86520925-86520926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536861604	chr12:86522640-86522641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548344763	chr12:86522642-86522643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557928038	chr12:86522662-86522663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368312006	chr12:86522685-86522686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569838720	chr12:86522710-86522711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537015807	chr12:86522724-86522725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558515432	chr12:86522752-86522753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186621432	chr12:86522757-86522758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60587165	chr12:86522775-86522776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs839180	chr12:86522782-86522783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574508495	chr12:86522788-86522789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542012826	chr12:86522809-86522810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576016490	chr12:86522851-86522852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575394327	chr12:86523001-86523002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193286635	chr12:86523059-86523060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564066127	chr12:86523069-86523070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs839181	chr12:86523093-86523094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185464935	chr12:86523127-86523128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs863397	chr12:86523259-86523260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4586245	chr12:86523266-86523267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7487426	chr12:86523278-86523279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553208894	chr12:86523281-86523282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35391935	chr12:86523282-86523283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201950203	chr12:86523326-86523327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200409663	chr12:86523327-86523328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201156233	chr12:86523328-86523329	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Acute myeloid leukemia	21251322	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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86516800-86517200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:86520600-86521000	Enhancers	Fetal Heart	heart
3	chr12:86522600-86523400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:86523400-86528200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:86524800-86525600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:86525600-86527400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:86525800-86526000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:86525800-86526200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:86526200-86528200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:86526200-86531200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:86526800-86529800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:86527000-86527200	Enhancers	Brain Germinal Matrix	brain
13	chr12:86527000-86527400	Enhancers	Fetal Heart	heart
14	chr12:86527000-86528400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:86527000-86528800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:86527200-86528200	Weak transcription	Brain Germinal Matrix	brain
17	chr12:86527400-86527600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:86527400-86529800	Weak transcription	Fetal Heart	heart
19	chr12:86527600-86528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:86528000-86528200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:86528000-86528800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:86528000-86529400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:86528000-86529400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:86528000-86529400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:86528200-86528800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:86528200-86528800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:86528200-86528800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:86528200-86529000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:86528200-86529000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:86528200-86530400	Enhancers	Brain Germinal Matrix	brain
31	chr12:86528200-86531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:86528400-86528600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:86528400-86528800	Enhancers	A549	lung
34	chr12:86528400-86529000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:86528600-86528800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:86528600-86529000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:86528600-86529600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:86528800-86531400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:86528800-86531400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:86528800-86531400	Weak transcription	A549	lung
41	chr12:86529000-86531800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:86529400-86531200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:86529400-86531400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:86529800-86538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:86530400-86538800	Weak transcription	Brain Germinal Matrix	brain
46	chr12:86531000-86531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:86531000-86531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:86531000-86532800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:86531000-86532800	Enhancers	NHEK	skin
50	chr12:86531200-86531800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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