Variant report

Variant	esv3351670
Chromosome Location	chr12:11257835-11259833
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	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77370481	chr12:11257845-11257846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566150428	chr12:11257858-11257859	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181864234	chr12:11257863-11257864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2708359	chr12:11257876-11257877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs201365822	chr12:11257898-11257899	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150577096	chr12:11257910-11257911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138656554	chr12:11257914-11257915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553699494	chr12:11257959-11257960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573813024	chr12:11257982-11257983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553295940	chr12:11258004-11258005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184940521	chr12:11258009-11258010	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2597963	chr12:11258011-11258012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs200796531	chr12:11258070-11258071	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545024557	chr12:11258074-11258075	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201734426	chr12:11258088-11258089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2600349	chr12:11258149-11258150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs375296042	chr12:11258168-11258169	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547308065	chr12:11258198-11258199	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560603263	chr12:11258208-11258209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189787357	chr12:11258214-11258215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2708358	chr12:11258253-11258254	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563870716	chr12:11258401-11258402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2443739	chr12:11258446-11258447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs537899450	chr12:11258458-11258459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61912114	chr12:11258477-11258478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386760353	chr12:11258503-11258504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2708357	chr12:11258511-11258512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs373607928	chr12:11258563-11258564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533916328	chr12:11258607-11258608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554061878	chr12:11258627-11258628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111296642	chr12:11258643-11258644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573849803	chr12:11258671-11258672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540384454	chr12:11258701-11258702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536457263	chr12:11258730-11258731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180979080	chr12:11258782-11258783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556037677	chr12:11258783-11258784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576227294	chr12:11258790-11258791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545091760	chr12:11258829-11258830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564959915	chr12:11258838-11258839	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572100792	chr12:11258863-11258864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139481923	chr12:11258872-11258873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377587111	chr12:11258882-11258883	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145127665	chr12:11258917-11258918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185405165	chr12:11258968-11258969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188159573	chr12:11259021-11259022	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531331669	chr12:11259054-11259055	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78484670	chr12:11259149-11259150	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551142376	chr12:11259164-11259165	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531704865	chr12:11259165-11259166	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74062439	chr12:11259186-11259187	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11203800-11261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:11205800-11269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11208600-11259600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:11221200-11259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:11225200-11261000	Weak transcription	Fetal Stomach	stomach
6	chr12:11234400-11261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:11234400-11261400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:11237200-11262200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:11239200-11283600	Weak transcription	Fetal Thymus	thymus
10	chr12:11239600-11261600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:11239800-11261400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11241800-11259400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11244800-11261400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:11245200-11286000	Weak transcription	Ovary	ovary
15	chr12:11249600-11261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:11249800-11261600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:11251000-11276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:11251200-11259600	Weak transcription	Thymus	Thymus
19	chr12:11251200-11269800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:11251400-11259200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:11251400-11259600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:11251400-11260000	Weak transcription	A549	lung
23	chr12:11251800-11263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:11252000-11261400	Weak transcription	Left Ventricle	heart
25	chr12:11252200-11258800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:11252200-11274800	Weak transcription	HSMM	muscle
27	chr12:11252400-11259600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:11252400-11261400	Weak transcription	Psoas Muscle	Psoas
29	chr12:11252600-11261200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:11252800-11261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:11253000-11261000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:11253000-11265200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:11253000-11283200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:11253200-11259000	Weak transcription	Liver	Liver
35	chr12:11254000-11259600	Weak transcription	Pancreas	Pancrea
36	chr12:11254000-11261000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:11254000-11261000	Weak transcription	Aorta	Aorta
38	chr12:11254000-11261200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:11254000-11261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:11254000-11262600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:11254000-11267000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:11254200-11259000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:11254200-11261800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:11256000-11259800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:11256000-11259800	Weak transcription	Fetal Brain Male	brain
46	chr12:11256400-11258400	ZNF genes & repeats	Dnd41	blood
47	chr12:11257000-11259400	Weak transcription	Fetal Kidney	kidney
48	chr12:11257000-11260800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:11257200-11258200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:11257200-11258200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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