Variant report

Variant	esv3388257
Chromosome Location	chr2:116348771-116365419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 490 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:490 , 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	rs547755240	chr2:116351444-116351445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs116324871	chr2:116351445-116351446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530234452	chr2:116351461-116351462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143791438	chr2:116351546-116351547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569522970	chr2:116351555-116351556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538437062	chr2:116351563-116351564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs76828060	chr2:116351586-116351587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs78146806	chr2:116351592-116351593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534353686	chr2:116351636-116351637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540913611	chr2:116351658-116351659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558322415	chr2:116351669-116351670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1375154	chr2:116351751-116351752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567932903	chr2:116351771-116351772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575917790	chr2:116351850-116351851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572481573	chr2:116351866-116351867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557085598	chr2:116351872-116351873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538430575	chr2:116351899-116351900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576760009	chr2:116351978-116351979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200186232	chr2:116351984-116351985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151114488	chr2:116352048-116352049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559021938	chr2:116352058-116352059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142662964	chr2:116352069-116352070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541335789	chr2:116352107-116352108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs34792068	chr2:116352130-116352131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561338536	chr2:116352173-116352174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145745214	chr2:116352177-116352178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543550706	chr2:116352224-116352225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563438532	chr2:116352225-116352226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532203192	chr2:116352227-116352228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35609528	chr2:116352240-116352241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551935277	chr2:116352266-116352267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565702268	chr2:116352377-116352378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546153411	chr2:116352470-116352471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528406928	chr2:116352579-116352580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548135022	chr2:116352624-116352625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112581741	chr2:116352693-116352694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114054886	chr2:116352700-116352701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557122504	chr2:116352738-116352739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138630864	chr2:116352739-116352740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539506669	chr2:116352773-116352774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559129108	chr2:116352775-116352776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76544803	chr2:116352819-116352820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544691768	chr2:116352859-116352860	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544087245	chr2:116352922-116352923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541720742	chr2:116352926-116352927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373233508	chr2:116352932-116352933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554953807	chr2:116352958-116352959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560550762	chr2:116352977-116352978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574539557	chr2:116352984-116352985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114777156	chr2:116353060-116353061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116351400-116352600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116351600-116352800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:116352200-116352400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr2:116352200-116353000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr2:116352400-116353600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:116352800-116353200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:116353000-116353400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:116353000-116354000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:116353200-116353600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:116353200-116354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:116353400-116354000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:116353400-116354000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:116353600-116353800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:116353600-116353800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:116353600-116353800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:116353600-116354200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:116353600-116354400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:116353600-116354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:116353800-116354200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:116353800-116357200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:116353800-116364000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:116354000-116354400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:116354000-116355000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:116354000-116355000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:116354000-116355000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:116354200-116354800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:116354200-116354800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:116354200-116355000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:116354200-116355000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:116354200-116355000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:116354400-116354800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:116354400-116354800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:116354400-116354800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:116354800-116355000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:116354800-116355000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:116354800-116356200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:116355000-116355600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:116355000-116356000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:116355000-116356000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:116355000-116356000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:116355000-116356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:116355000-116358400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:116355000-116364000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:116355600-116357400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:116356000-116356600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:116356000-116357200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:116356000-116357400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:116356200-116356600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:116356200-116357200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:116356600-116359000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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