Variant report

Variant	esv3327425
Chromosome Location	chr12:32869210-32872058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558458332	chr12:32869225-32869226	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12316165	chr12:32869305-32869306	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533008969	chr12:32869333-32869334	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546626018	chr12:32869380-32869381	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540830905	chr12:32869388-32869389	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114434909	chr12:32869451-32869452	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535769649	chr12:32869485-32869486	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548984157	chr12:32869492-32869493	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569068367	chr12:32869500-32869501	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564106577	chr12:32869557-32869558	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537642275	chr12:32869558-32869559	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78900733	chr12:32869635-32869636	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71447619	chr12:32869676-32869677	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375944425	chr12:32869677-32869678	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs68154285	chr12:32869728-32869729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533993863	chr12:32869749-32869750	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553769638	chr12:32869929-32869930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116174979	chr12:32870009-32870010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188363822	chr12:32870022-32870023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28560189	chr12:32870034-32870035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28623708	chr12:32870037-32870038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28744457	chr12:32870043-32870044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28700241	chr12:32870053-32870054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202143134	chr12:32870055-32870056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28711963	chr12:32870056-32870057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377742282	chr12:32870079-32870080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545278190	chr12:32870122-32870123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11052201	chr12:32870133-32870134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191154505	chr12:32870163-32870164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113118668	chr12:32870171-32870172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112370165	chr12:32870210-32870211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532094265	chr12:32870226-32870227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551879145	chr12:32870228-32870229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533077184	chr12:32870247-32870248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546691300	chr12:32870248-32870249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568551233	chr12:32870254-32870255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368312053	chr12:32870256-32870257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370882011	chr12:32870257-32870258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560219900	chr12:32870261-32870262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528867059	chr12:32870265-32870266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549305256	chr12:32870266-32870267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7138115	chr12:32870275-32870276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531286185	chr12:32870276-32870277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569059002	chr12:32870283-32870284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538102029	chr12:32870289-32870290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551300689	chr12:32870291-32870292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571078477	chr12:32870292-32870293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375816283	chr12:32870299-32870300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534052876	chr12:32870300-32870301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10692401	chr12:32870317-32870318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32834200-32871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:32835000-32874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:32835000-32902600	Weak transcription	Gastric	stomach
4	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
5	chr12:32842400-32874400	Weak transcription	Lung	lung
6	chr12:32846800-32871400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:32848800-32869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:32851400-32874600	Weak transcription	Right Ventricle	heart
9	chr12:32851400-32906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:32853000-32874600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:32853000-32902200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:32853200-32874400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:32853400-32879200	Weak transcription	Fetal Heart	heart
14	chr12:32854200-32869600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:32855000-32870000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:32857600-32869600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:32858400-32869600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:32858800-32869600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:32859200-32869400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:32859200-32879200	Weak transcription	Pancreas	Pancrea
21	chr12:32859200-32890600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:32859400-32869600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:32859600-32869600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:32859600-32895000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:32859800-32869400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:32860000-32869600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:32860400-32874600	Weak transcription	Spleen	Spleen
28	chr12:32860600-32879200	Weak transcription	Colonic Mucosa	Colon
29	chr12:32861000-32869400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32861000-32869600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:32862000-32869600	Strong transcription	Fetal Intestine Large	intestine
32	chr12:32862400-32869600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32862400-32889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32862600-32869600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:32862600-32894200	Weak transcription	Aorta	Aorta
36	chr12:32862600-32896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:32864400-32871600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:32865000-32878600	Weak transcription	Thymus	Thymus
39	chr12:32865000-32889600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:32865000-32893000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:32865000-32904400	Weak transcription	Stomach Mucosa	stomach
42	chr12:32865200-32871400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:32865200-32871400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:32865200-32871600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:32865200-32871600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:32865200-32871600	Weak transcription	Psoas Muscle	Psoas
47	chr12:32865200-32874600	Weak transcription	Brain Angular Gyrus	brain
48	chr12:32865200-32874600	Weak transcription	Fetal Kidney	kidney
49	chr12:32865200-32889200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:32865400-32871400	Weak transcription	Brain Anterior Caudate	brain

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