Variant report

Variant	esv3414157
Chromosome Location	chr2:132996231-132997530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62166199	chr2:132996232-132996233	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138951745	chr2:132996238-132996239	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577555655	chr2:132996240-132996241	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62166200	chr2:132996251-132996252	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62166201	chr2:132996257-132996258	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112498771	chr2:132996272-132996273	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62166202	chr2:132996275-132996276	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184334148	chr2:132996283-132996284	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62166203	chr2:132996290-132996291	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554396955	chr2:132996292-132996293	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201727167	chr2:132996305-132996306	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112608041	chr2:132996314-132996315	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543206235	chr2:132996317-132996318	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373983992	chr2:132996319-132996320	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111518194	chr2:132996333-132996334	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs62166204	chr2:132996337-132996338	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs62166205	chr2:132996344-132996345	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528439026	chr2:132996352-132996353	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62166206	chr2:132996361-132996362	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62166207	chr2:132996373-132996374	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77996747	chr2:132996382-132996383	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75758157	chr2:132996390-132996391	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs202223651	chr2:132996396-132996397	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62166208	chr2:132996397-132996398	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111766883	chr2:132996423-132996424	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576640090	chr2:132996448-132996449	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149155240	chr2:132996452-132996453	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543885305	chr2:132996454-132996455	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565176155	chr2:132996461-132996462	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138515271	chr2:132996462-132996463	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532535975	chr2:132996463-132996464	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143889250	chr2:132996469-132996470	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144104340	chr2:132996471-132996472	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147024136	chr2:132996472-132996473	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150112612	chr2:132996473-132996474	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142641810	chr2:132996474-132996475	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139292415	chr2:132996475-132996476	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145836750	chr2:132996476-132996477	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142703418	chr2:132996477-132996478	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551390340	chr2:132996479-132996480	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77103257	chr2:132996498-132996499	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs151327675	chr2:132996501-132996502	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79716325	chr2:132996506-132996507	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs137914178	chr2:132996507-132996508	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559976046	chr2:132996508-132996509	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77496888	chr2:132996512-132996513	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113268477	chr2:132996521-132996522	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186114089	chr2:132996534-132996535	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201940488	chr2:132996541-132996542	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200343072	chr2:132996542-132996543	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr2:132996200-132996400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:132996200-132996400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:132996200-132996400	Active TSS	Right Atrium	heart
10	chr2:132996200-132996400	ZNF genes & repeats	Spleen	Spleen
11	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:132996200-132996600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:132996200-132996600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr2:132996200-132996600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
16	chr2:132996200-132996600	ZNF genes & repeats	Fetal Kidney	kidney
17	chr2:132996200-132996600	ZNF genes & repeats	Fetal Lung	lung
18	chr2:132996200-132996600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr2:132996200-132996600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr2:132996200-132996600	Flanking Active TSS	Thymus	Thymus
21	chr2:132996200-132996600	ZNF genes & repeats	A549	lung
22	chr2:132996200-132996600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr2:132996200-132996600	ZNF genes & repeats	HMEC	breast
24	chr2:132996200-132996600	ZNF genes & repeats	HSMM	muscle
25	chr2:132996200-132996600	ZNF genes & repeats	NHEK	skin
26	chr2:132996200-132996600	ZNF genes & repeats	NHLF	lung
27	chr2:132996200-132996600	ZNF genes & repeats	Osteobl	bone
28	chr2:132996200-132996800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:132996200-132996800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr2:132996200-132996800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:132996200-132996800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr2:132996200-132996800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr2:132996200-132996800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:132996200-132996800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:132996200-132996800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr2:132996200-132996800	Flanking Bivalent TSS/Enh	Aorta	Aorta
46	chr2:132996200-132996800	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr2:132996200-132996800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr2:132996200-132996800	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr2:132996200-132996800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr2:132996200-132996800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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