Variant report

Variant	nsv979145
Chromosome Location	chr2:168570070-168572325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168569700..168571629-chr2:168574567..168576209,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569928269	chr2:168570162-168570163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189108918	chr2:168570189-168570190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552501167	chr2:168570203-168570204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566225233	chr2:168570255-168570256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534639529	chr2:168570257-168570258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554287780	chr2:168570258-168570259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58834919	chr2:168570261-168570262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148734857	chr2:168570286-168570287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114314235	chr2:168570316-168570317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577155477	chr2:168570329-168570330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546009677	chr2:168570337-168570338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563798166	chr2:168570355-168570356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572375934	chr2:168570372-168570373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542080353	chr2:168570384-168570385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192585635	chr2:168570415-168570416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530066802	chr2:168570416-168570417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543515552	chr2:168570426-168570427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62194985	chr2:168570440-168570441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62194986	chr2:168570446-168570447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13412132	chr2:168570458-168570459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190437607	chr2:168570478-168570479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528794592	chr2:168570504-168570505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181943188	chr2:168570510-168570511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186045236	chr2:168570511-168570512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58665661	chr2:168570532-168570533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550733984	chr2:168570538-168570539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570547027	chr2:168570542-168570543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539674031	chr2:168570550-168570551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189268443	chr2:168570557-168570558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572959586	chr2:168570581-168570582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151242380	chr2:168570666-168570667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115227666	chr2:168570684-168570685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549657789	chr2:168570742-168570743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574541702	chr2:168570748-168570749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12987185	chr2:168570749-168570750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145657224	chr2:168570770-168570771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7577697	chr2:168570776-168570777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567795886	chr2:168570792-168570793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546242499	chr2:168570827-168570828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559703475	chr2:168570830-168570831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528639502	chr2:168570839-168570840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548647526	chr2:168570895-168570896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562395448	chr2:168570910-168570911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530554403	chr2:168570917-168570918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181193034	chr2:168570937-168570938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570434564	chr2:168570951-168570952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539555376	chr2:168570983-168570984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186712311	chr2:168570996-168570997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566554572	chr2:168571021-168571022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191254056	chr2:168571025-168571026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Prostate cancer	18632612	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168555400-168572400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:168564400-168572000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168564600-168578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:168565400-168571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:168569000-168572400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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