Variant report

Variant	esv3368699
Chromosome Location	chr12:10281384-10281862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542957571	chr12:10281393-10281394	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs17807926	chr12:10281421-10281422	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557537899	chr12:10281424-10281425	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189818300	chr12:10281505-10281506	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113185680	chr12:10281514-10281515	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546062235	chr12:10281515-10281516	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553643683	chr12:10281538-10281539	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181952797	chr12:10281551-10281552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186293069	chr12:10281569-10281570	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191967964	chr12:10281603-10281604	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562376062	chr12:10281639-10281640	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11837564	chr12:10281643-10281644	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530784436	chr12:10281648-10281649	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183301229	chr12:10281655-10281656	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368164501	chr12:10281662-10281663	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147176820	chr12:10281680-10281681	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546390093	chr12:10281743-10281744	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138735057	chr12:10281786-10281787	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188594620	chr12:10281794-10281795	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548829234	chr12:10281844-10281845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201605085	chr12:10281846-10281847	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7311598	chr12:10281847-10281848	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79727282	chr12:10281853-10281854	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22543975	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10278600-10282400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:10280000-10282000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
3	chr12:10280400-10282800	Active TSS	Brain Hippocampus Middle	brain
4	chr12:10280600-10283200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:10280600-10284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:10280800-10281400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:10280800-10281600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:10280800-10282800	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr12:10281000-10281400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr12:10281000-10281600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:10281000-10281600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:10281000-10281600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr12:10281000-10281800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:10281000-10282000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:10281000-10282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:10281000-10282800	Active TSS	Brain Anterior Caudate	brain
17	chr12:10281000-10283000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:10281200-10281400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr12:10281200-10281600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:10281200-10281600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:10281200-10281800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:10281200-10281800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:10281200-10281800	Active TSS	Adipose Nuclei	Adipose
24	chr12:10281200-10282800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:10281200-10282800	Active TSS	Duodenum Mucosa	Duodenum
26	chr12:10281200-10283000	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:10281400-10281600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:10281400-10281600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:10281400-10282800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:10281400-10285000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:10281600-10282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:10281600-10282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:10281600-10282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:10281600-10283000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr12:10281600-10283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:10281600-10283600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:10281600-10284200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:10281800-10282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:10281800-10282600	Active TSS	Fetal Intestine Large	intestine
41	chr12:10281800-10282800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:10281800-10282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:10281800-10282800	Active TSS	Fetal Muscle Leg	muscle
44	chr12:10281800-10282800	Active TSS	Placenta	Placenta
45	chr12:10281800-10283000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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