Variant report

Variant	esv3343886
Chromosome Location	chr12:989930-990418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:989747-989947	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:990310-990338	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:989981-990005	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:989893-989968	K562	blood:	n/a	n/a

Variant related genes	Relation type
WNK1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200215767	chr12:989946-989947	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138446333	chr12:989949-989950	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374035700	chr12:989959-989960	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142557719	chr12:989982-989983	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs72650706	chr12:989997-989998	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377242632	chr12:990007-990008	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533134647	chr12:990042-990043	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186736970	chr12:990070-990071	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191295023	chr12:990073-990074	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150212942	chr12:990135-990136	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573232975	chr12:990154-990155	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370157983	chr12:990176-990177	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201876386	chr12:990178-990179	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72650707	chr12:990180-990181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374446980	chr12:990189-990190	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371754295	chr12:990200-990201	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555388811	chr12:990220-990221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573700668	chr12:990221-990222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34926557	chr12:990250-990251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72650708	chr12:990276-990277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544338910	chr12:990287-990288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72650709	chr12:990294-990295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577742595	chr12:990308-990309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545223652	chr12:990326-990327	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556759361	chr12:990330-990331	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs72650710	chr12:990333-990334	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs72650711	chr12:990401-990402	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527635856	chr12:990404-990405	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:928200-994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:962200-1002600	Strong transcription	Dnd41	blood
3	chr12:962200-1012400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:964200-1007600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:965800-1014000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:966000-1002200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:966000-1012200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:966000-1014800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:967200-1005800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:968600-1006400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:968800-993800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:978200-993800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:980000-990600	Strong transcription	GM12878-XiMat	blood
17	chr12:980000-1013200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:980600-990800	Weak transcription	Fetal Heart	heart
19	chr12:982200-1027000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:986000-996800	Strong transcription	Fetal Thymus	thymus
21	chr12:986200-1002400	Strong transcription	Left Ventricle	heart
22	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:986400-999800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:986400-1014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:986600-999800	Strong transcription	HepG2	liver
26	chr12:986600-1012000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:986600-1012000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:986600-1012200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:986800-996200	Strong transcription	K562	blood
30	chr12:986800-1002000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:986800-1014600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:986800-1028400	Strong transcription	Placenta	Placenta
33	chr12:987000-991200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:987000-998800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:987000-999800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:987000-999800	Strong transcription	Brain Anterior Caudate	brain
37	chr12:987000-1000000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:987000-1000200	Strong transcription	Thymus	Thymus
39	chr12:987000-1000400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:987000-1000400	Strong transcription	HMEC	breast
41	chr12:987000-1001200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:987000-1001400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:987000-1001800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:987000-1002000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:987000-1002000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:987000-1002000	Strong transcription	A549	lung
47	chr12:987000-1002400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:987000-1002600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:987000-1007000	Strong transcription	HUVEC	blood vessel
50	chr12:987000-1007200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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