Variant report

Variant	esv3348119
Chromosome Location	chr2:168419706-168422004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184746194	chr2:168419723-168419724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189953659	chr2:168419731-168419732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79077107	chr2:168419734-168419735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185168055	chr2:168419747-168419748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79146122	chr2:168419762-168419763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188361478	chr2:168419770-168419771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560164042	chr2:168419774-168419775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529229629	chr2:168419812-168419813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62196688	chr2:168419816-168419817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181763887	chr2:168419826-168419827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34801711	chr2:168419835-168419836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562967220	chr2:168419839-168419840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35857990	chr2:168419843-168419844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531814829	chr2:168419856-168419857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558365158	chr2:168419883-168419884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113558123	chr2:168419901-168419902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374503539	chr2:168419914-168419915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528035476	chr2:168419917-168419918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62196689	chr2:168419928-168419929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62196690	chr2:168419938-168419939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62196691	chr2:168419946-168419947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62196692	chr2:168419949-168419950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548084876	chr2:168419951-168419952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567302231	chr2:168419956-168419957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13003232	chr2:168419960-168419961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536217878	chr2:168419968-168419969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13003237	chr2:168419969-168419970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13029719	chr2:168419975-168419976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567219899	chr2:168419979-168419980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13029895	chr2:168419986-168419987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13003578	chr2:168419996-168419997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556438975	chr2:168420029-168420030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577047430	chr2:168420036-168420037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377078716	chr2:168420037-168420038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576674712	chr2:168420072-168420073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370099423	chr2:168420078-168420079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569688387	chr2:168420120-168420121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570324339	chr2:168420131-168420132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186572077	chr2:168420235-168420236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558759723	chr2:168420239-168420240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572146361	chr2:168420242-168420243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540955014	chr2:168420309-168420310	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191576329	chr2:168420321-168420322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369647066	chr2:168420322-168420323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554427498	chr2:168420400-168420401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568391676	chr2:168420410-168420411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374076215	chr2:168420411-168420412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573714471	chr2:168420433-168420434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542584432	chr2:168420440-168420441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563667264	chr2:168420457-168420458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168415000-168420800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168415800-168420800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:168419400-168421200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:168419600-168419800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:168420600-168421200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:168420800-168421000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr2:168420800-168421200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr2:168420800-168421200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:168421200-168421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:168421200-168423200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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