Variant report

Variant	esv3351170
Chromosome Location	chr2:132997586-133000644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 498 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372786882	chr2:132997588-132997589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371609353	chr2:132997591-132997592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376303611	chr2:132997600-132997601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62166220	chr2:132997601-132997602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62166221	chr2:132997611-132997612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185381037	chr2:132997615-132997616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58538155	chr2:132997616-132997617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201548633	chr2:132997620-132997621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190192445	chr2:132997626-132997627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199831978	chr2:132997629-132997630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62163965	chr2:132997631-132997632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62163966	chr2:132997636-132997637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201729609	chr2:132997637-132997638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62163967	chr2:132997639-132997640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147749170	chr2:132997642-132997643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144668025	chr2:132997645-132997646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62163968	chr2:132997647-132997648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111384813	chr2:132997648-132997649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111834307	chr2:132997660-132997661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145366535	chr2:132997662-132997663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140670509	chr2:132997667-132997668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137896672	chr2:132997670-132997671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146975836	chr2:132997672-132997673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149337438	chr2:132997673-132997674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139245018	chr2:132997681-132997682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371172224	chr2:132997682-132997683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76679120	chr2:132997686-132997687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148316676	chr2:132997688-132997689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78926152	chr2:132997690-132997691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146137591	chr2:132997692-132997693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142075553	chr2:132997693-132997694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140833433	chr2:132997694-132997695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138212427	chr2:132997698-132997699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150871682	chr2:132997699-132997700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79408514	chr2:132997703-132997704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139454257	chr2:132997704-132997705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79108901	chr2:132997706-132997707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145696969	chr2:132997716-132997717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373441962	chr2:132997723-132997724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377437465	chr2:132997728-132997729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111261762	chr2:132997733-132997734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570295474	chr2:132997734-132997735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370259000	chr2:132997735-132997736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374752140	chr2:132997740-132997741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79670376	chr2:132997741-132997742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75552192	chr2:132997760-132997761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537269431	chr2:132997762-132997763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367631101	chr2:132997765-132997766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184013688	chr2:132997782-132997783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78473737	chr2:132997784-132997785	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:129 , 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	chr2:132996200-132997600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:132996200-132997600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:132996200-132997600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
10	chr2:132996200-132997600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr2:132996200-132997600	ZNF genes & repeats	K562	blood
12	chr2:132996200-132997800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr2:132996200-132997800	ZNF genes & repeats	Left Ventricle	heart
14	chr2:132996200-132997800	ZNF genes & repeats	Ovary	ovary
15	chr2:132996200-132997800	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr2:132996200-132997800	ZNF genes & repeats	Dnd41	blood
17	chr2:132996200-132997800	ZNF genes & repeats	HSMMtube	muscle
18	chr2:132996200-132998400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr2:132996200-132998400	ZNF genes & repeats	NH-A	brain
20	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
22	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
30	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr2:132996600-132999800	Weak transcription	A549	lung
33	chr2:132996600-132999800	Weak transcription	NHLF	lung
34	chr2:132996600-133003400	Weak transcription	NHEK	skin
35	chr2:132996800-132998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:132996800-132998400	Weak transcription	HUVEC	blood vessel
37	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:132997200-132997600	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr2:132997200-132997600	ZNF genes & repeats	Right Ventricle	heart
41	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:132997600-132998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:132997600-132999800	Weak transcription	K562	blood
44	chr2:132997800-132998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:132997800-132999800	Weak transcription	Ovary	ovary
46	chr2:132998200-132999000	Active TSS	Aorta	Aorta
47	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
48	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain

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