Variant report

Variant	esv3406829
Chromosome Location	chr12:8142396-8142849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8084020..8086848-chr12:8141207..8142977,3	K562	blood:
2	chr12:8118275..8120504-chr12:8142781..8144500,2	MCF-7	breast:
3	chr12:8083329..8085520-chr12:8141366..8142977,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370353216	chr12:8142418-8142419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs7313772	chr12:8142456-8142457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189922068	chr12:8142564-8142565	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7137199	chr12:8142583-8142584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs12297131	chr12:8142607-8142608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369836936	chr12:8142678-8142679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117629002	chr12:8142768-8142769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182608398	chr12:8142781-8142782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140809734	chr12:8142785-8142786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7304465	chr12:8142798-8142799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs186544724	chr12:8142799-8142800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573451514	chr12:8142830-8142831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8134200-8142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8136400-8143400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:8138600-8144400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:8140000-8142600	Enhancers	Hela-S3	cervix
5	chr12:8141200-8142400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:8141400-8142400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:8141400-8142600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:8141400-8142600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:8141400-8143800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:8141600-8142400	Enhancers	Primary T cells from cord blood	blood
11	chr12:8141600-8144600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:8141800-8144200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:8141800-8144200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:8142000-8142400	Enhancers	K562	blood
15	chr12:8142000-8142600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:8142000-8142600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:8142000-8142600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:8142000-8142800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:8142000-8142800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:8142000-8142800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:8142000-8142800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:8142000-8143000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:8142000-8143200	Enhancers	HUVEC	blood vessel
24	chr12:8142000-8143400	Enhancers	HepG2	liver
25	chr12:8142000-8143600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:8142000-8143600	Enhancers	Placenta	Placenta
27	chr12:8142000-8143600	Enhancers	Fetal Thymus	thymus
28	chr12:8142200-8142400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:8142200-8142800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:8142200-8143000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:8142200-8143200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:8142200-8143200	Weak transcription	Lung	lung
33	chr12:8142200-8143200	Enhancers	Stomach Mucosa	stomach
34	chr12:8142200-8143200	Enhancers	A549	lung
35	chr12:8142200-8143200	Flanking Active TSS	Dnd41	blood
36	chr12:8142200-8144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:8142400-8142600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:8142400-8142600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:8142400-8143000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr12:8142400-8143000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:8142400-8143000	Enhancers	Fetal Lung	lung
42	chr12:8142400-8143000	Flanking Active TSS	K562	blood
43	chr12:8142400-8143200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:8142400-8143200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:8142400-8143200	Enhancers	Thymus	Thymus
46	chr12:8142600-8143000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:8142600-8143000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:8142600-8143000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:8142600-8143000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:8142600-8143000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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