Variant report

Variant	esv1851042
Chromosome Location	chr12:12026506-12027745
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	chr12:12026018..12028025-chr12:12033109..12035684,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138854817	chr12:12026581-12026582	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575990185	chr12:12026619-12026620	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186686393	chr12:12026639-12026640	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190000312	chr12:12026716-12026717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181264375	chr12:12026736-12026737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201631079	chr12:12026757-12026758	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55884831	chr12:12026871-12026872	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78603002	chr12:12026992-12026993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185510136	chr12:12027029-12027030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562470829	chr12:12027048-12027049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557784840	chr12:12027091-12027092	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12809673	chr12:12027101-12027102	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12811193	chr12:12027136-12027137	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200549767	chr12:12027152-12027153	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201285727	chr12:12027153-12027154	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61921360	chr12:12027175-12027176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552362571	chr12:12027178-12027179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189877036	chr12:12027212-12027213	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531596907	chr12:12027225-12027226	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549788867	chr12:12027271-12027272	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554666479	chr12:12027275-12027276	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568468095	chr12:12027309-12027310	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535451933	chr12:12027310-12027311	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35586470	chr12:12027311-12027312	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547525175	chr12:12027334-12027335	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34938120	chr12:12027342-12027343	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs180713631	chr12:12027343-12027344	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149298068	chr12:12027350-12027351	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576679944	chr12:12027367-12027368	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71057776	chr12:12027373-12027374	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537782695	chr12:12027388-12027389	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555764179	chr12:12027397-12027398	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199947870	chr12:12027398-12027399	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144602173	chr12:12027399-12027400	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71443680	chr12:12027405-12027406	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs71443681	chr12:12027407-12027408	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572126970	chr12:12027429-12027430	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568429156	chr12:12027430-12027431	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375017799	chr12:12027431-12027432	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371512931	chr12:12027432-12027433	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376643350	chr12:12027433-12027434	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368419946	chr12:12027438-12027439	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372790690	chr12:12027447-12027448	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546044537	chr12:12027451-12027452	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564338465	chr12:12027452-12027453	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531381057	chr12:12027453-12027454	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543743983	chr12:12027454-12027455	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561824077	chr12:12027455-12027456	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376829407	chr12:12027461-12027462	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529257929	chr12:12027462-12027463	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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 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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
2	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
7	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:12018800-12027200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:12019400-12027000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12019600-12026800	Strong transcription	Primary B cells from cord blood	blood
11	chr12:12019600-12028000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:12019600-12028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:12019600-12028200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:12019600-12028200	Weak transcription	Stomach Mucosa	stomach
15	chr12:12019600-12030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:12019600-12030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:12019800-12026800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:12019800-12026800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:12019800-12027000	Strong transcription	Liver	Liver
20	chr12:12019800-12027200	Strong transcription	GM12878-XiMat	blood
21	chr12:12019800-12030400	Weak transcription	Fetal Heart	heart
22	chr12:12019800-12031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:12020000-12028200	Weak transcription	Psoas Muscle	Psoas
24	chr12:12020000-12028400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:12020000-12031000	Weak transcription	HepG2	liver
26	chr12:12020000-12037400	Weak transcription	Fetal Brain Female	brain
27	chr12:12020200-12028200	Weak transcription	A549	lung
28	chr12:12020200-12039600	Weak transcription	Fetal Kidney	kidney
29	chr12:12020400-12027200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:12020400-12027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:12021000-12026600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:12021400-12030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:12022600-12028200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:12022800-12029600	Weak transcription	Brain Germinal Matrix	brain
35	chr12:12023000-12030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:12023000-12030800	Weak transcription	Ovary	ovary
37	chr12:12023200-12026600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:12023400-12028400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:12023400-12028400	Weak transcription	Left Ventricle	heart
40	chr12:12023400-12028600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:12023400-12028800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:12023400-12030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:12023400-12030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:12023400-12030600	Weak transcription	NHLF	lung
45	chr12:12023400-12030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:12023600-12028200	Weak transcription	Small Intestine	intestine
47	chr12:12023600-12028400	Weak transcription	Brain Substantia Nigra	brain
48	chr12:12023600-12030400	Weak transcription	NH-A	brain
49	chr12:12023800-12028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:12024000-12027800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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