Variant report

Variant	esv3336237
Chromosome Location	chr2:132996596-132997385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200821250	chr2:132996610-132996611	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567106440	chr2:132996620-132996621	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62166209	chr2:132996624-132996625	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78237392	chr2:132996625-132996626	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76917772	chr2:132996626-132996627	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62166210	chr2:132996631-132996632	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111551203	chr2:132996635-132996636	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386650598	chr2:132996646-132996647	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182522075	chr2:132996655-132996656	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187172886	chr2:132996661-132996662	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537583064	chr2:132996669-132996670	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368466155	chr2:132996670-132996671	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571156412	chr2:132996677-132996678	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144668510	chr2:132996682-132996683	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146460100	chr2:132996683-132996684	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538586115	chr2:132996684-132996685	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143634654	chr2:132996687-132996688	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146154199	chr2:132996692-132996693	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200710597	chr2:132996693-132996694	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201708478	chr2:132996697-132996698	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546966700	chr2:132996700-132996701	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200059941	chr2:132996701-132996702	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201006622	chr2:132996713-132996714	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201622972	chr2:132996716-132996717	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190449365	chr2:132996719-132996720	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199963854	chr2:132996729-132996730	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112591140	chr2:132996734-132996735	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572752116	chr2:132996761-132996762	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113341228	chr2:132996765-132996766	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151154258	chr2:132996768-132996769	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138822704	chr2:132996776-132996777	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140199473	chr2:132996787-132996788	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145515501	chr2:132996788-132996789	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146125425	chr2:132996789-132996790	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182983304	chr2:132996790-132996791	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142838941	chr2:132996794-132996795	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536926241	chr2:132996807-132996808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369470886	chr2:132996808-132996809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555238705	chr2:132996812-132996813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148574265	chr2:132996813-132996814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112119180	chr2:132996815-132996816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62166211	chr2:132996818-132996819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62166212	chr2:132996834-132996835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193270017	chr2:132996843-132996844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543600850	chr2:132996853-132996854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370049724	chr2:132996875-132996876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202012234	chr2:132996888-132996889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112951407	chr2:132996891-132996892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76433533	chr2:132996914-132996915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77994295	chr2:132996922-132996923	ZNF genes & repeats Weak transcription	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:123 , 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	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:132996200-132996600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:132996200-132996600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr2:132996200-132996600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
12	chr2:132996200-132996600	ZNF genes & repeats	Fetal Kidney	kidney
13	chr2:132996200-132996600	ZNF genes & repeats	Fetal Lung	lung
14	chr2:132996200-132996600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
15	chr2:132996200-132996600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr2:132996200-132996600	Flanking Active TSS	Thymus	Thymus
17	chr2:132996200-132996600	ZNF genes & repeats	A549	lung
18	chr2:132996200-132996600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr2:132996200-132996600	ZNF genes & repeats	HMEC	breast
20	chr2:132996200-132996600	ZNF genes & repeats	HSMM	muscle
21	chr2:132996200-132996600	ZNF genes & repeats	NHEK	skin
22	chr2:132996200-132996600	ZNF genes & repeats	NHLF	lung
23	chr2:132996200-132996600	ZNF genes & repeats	Osteobl	bone
24	chr2:132996200-132996800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:132996200-132996800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr2:132996200-132996800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:132996200-132996800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:132996200-132996800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr2:132996200-132996800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr2:132996200-132996800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:132996200-132996800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:132996200-132996800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
41	chr2:132996200-132996800	Flanking Bivalent TSS/Enh	Aorta	Aorta
42	chr2:132996200-132996800	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr2:132996200-132996800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr2:132996200-132996800	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr2:132996200-132996800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr2:132996200-132996800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:132996200-132996800	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr2:132996200-132996800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr2:132996200-132996800	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr2:132996200-132996800	ZNF genes & repeats	Fetal Heart	heart

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