Variant report

Variant	esv3461004
Chromosome Location	chr2:132974661-132977043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567950495	chr2:132974662-132974663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538119940	chr2:132974663-132974664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62165465	chr2:132974668-132974669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74996453	chr2:132974669-132974670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373979300	chr2:132974678-132974679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375877556	chr2:132974686-132974687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369982646	chr2:132974687-132974688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556354827	chr2:132974694-132974695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377006880	chr2:132974701-132974702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62165466	chr2:132974703-132974704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62165467	chr2:132974708-132974709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147190388	chr2:132974712-132974713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10205788	chr2:132974714-132974715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372665895	chr2:132974717-132974718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111937374	chr2:132974719-132974720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545176966	chr2:132974730-132974731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554290920	chr2:132974732-132974733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572440515	chr2:132974740-132974741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374604857	chr2:132974743-132974744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543020234	chr2:132974745-132974746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10170807	chr2:132974756-132974757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529216744	chr2:132974762-132974763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113514269	chr2:132974789-132974790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs202159396	chr2:132974792-132974793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544548847	chr2:132974803-132974804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62165468	chr2:132974804-132974805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201623545	chr2:132974813-132974814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62165469	chr2:132974817-132974818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62165470	chr2:132974826-132974827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370095599	chr2:132974847-132974848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562748878	chr2:132974853-132974854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201063893	chr2:132974885-132974886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376128276	chr2:132974886-132974887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149394676	chr2:132974894-132974895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533206674	chr2:132974901-132974902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201558174	chr2:132974903-132974904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372954690	chr2:132974906-132974907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551276097	chr2:132974909-132974910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62165471	chr2:132974931-132974932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375834044	chr2:132974932-132974933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62165472	chr2:132974937-132974938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370777482	chr2:132974939-132974940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138871329	chr2:132974947-132974948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62165473	chr2:132974949-132974950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375056182	chr2:132974969-132974970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62165474	chr2:132974973-132974974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144186337	chr2:132974975-132974976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150985963	chr2:132974976-132974977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs138499771	chr2:132974982-132974983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527349761	chr2:132974990-132974991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132974400-132975400	ZNF genes & repeats	Fetal Brain Male	brain
2	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr2:132975800-132976800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr2:132976000-132977800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr2:132976000-132977800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr2:132976200-132977400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:132976200-132977800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:132976200-132977800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr2:132976400-132976600	ZNF genes & repeats	Colon Smooth Muscle	Colon
16	chr2:132976400-132976800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr2:132976400-132977200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:132976600-132976800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:132976600-132977600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:132976800-132996200	Weak transcription	NHEK	skin

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