Variant report

Variant	esv3351631
Chromosome Location	chr2:132982669-132984738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 311 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143983550	chr2:132982669-132982670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532795427	chr2:132982673-132982674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550924831	chr2:132982674-132982675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200873977	chr2:132982685-132982686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201894558	chr2:132982691-132982692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193116180	chr2:132982692-132982693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111513102	chr2:132982694-132982695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566841995	chr2:132982706-132982707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534194702	chr2:132982714-132982715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549244582	chr2:132982716-132982717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111623571	chr2:132982718-132982719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567555412	chr2:132982754-132982755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538425375	chr2:132982755-132982756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556427944	chr2:132982769-132982770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578009574	chr2:132982777-132982778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62165559	chr2:132982782-132982783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538664493	chr2:132982791-132982792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113655392	chr2:132982794-132982795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200078547	chr2:132982796-132982797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113329218	chr2:132982804-132982805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554173051	chr2:132982811-132982812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62166060	chr2:132982817-132982818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573193879	chr2:132982822-132982823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201350774	chr2:132982828-132982829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62166061	chr2:132982829-132982830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2691891	chr2:132982835-132982836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112095630	chr2:132982837-132982838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143329850	chr2:132982849-132982850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368197653	chr2:132982852-132982853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540558317	chr2:132982857-132982858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62166062	chr2:132982862-132982863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79932920	chr2:132982870-132982871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36196840	chr2:132982871-132982872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77884950	chr2:132982874-132982875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573793011	chr2:132982875-132982876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78549573	chr2:132982876-132982877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79577624	chr2:132982877-132982878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77280224	chr2:132982881-132982882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74539857	chr2:132982885-132982886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76140627	chr2:132982886-132982887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76420532	chr2:132982888-132982889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76917886	chr2:132982891-132982892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74952007	chr2:132982893-132982894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77172038	chr2:132982894-132982895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75903118	chr2:132982898-132982899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371226520	chr2:132982902-132982903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75899584	chr2:132982903-132982904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112161584	chr2:132982906-132982907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76723594	chr2:132982909-132982910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80301880	chr2:132982912-132982913	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
9	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:132981200-132983000	Weak transcription	K562	blood
11	chr2:132982200-132983800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr2:132982200-132984000	ZNF genes & repeats	HUVEC	blood vessel
13	chr2:132982600-132983800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr2:132982800-132983800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:132982800-132984000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr2:132982800-132984000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:132982800-132984000	ZNF genes & repeats	Liver	Liver
18	chr2:132983000-132983400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:132983400-132984000	ZNF genes & repeats	K562	blood
20	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:132983600-132983800	Active TSS	Hela-S3	cervix
22	chr2:132983600-132984000	ZNF genes & repeats	HSMMtube	muscle
23	chr2:132983600-132984000	ZNF genes & repeats	NH-A	brain
24	chr2:132983800-132984000	Flanking Active TSS	Hela-S3	cervix
25	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
26	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
27	chr2:132984000-132985000	Weak transcription	NH-A	brain
28	chr2:132984000-132994800	Weak transcription	K562	blood
29	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
30	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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