Variant report

Variant	nsv978952
Chromosome Location	chr2:168378198-168383739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191312404	chr2:168378200-168378201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11884627	chr2:168378206-168378207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183865520	chr2:168378222-168378223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140623223	chr2:168378309-168378310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112033870	chr2:168378378-168378379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528212061	chr2:168378403-168378404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548268011	chr2:168378472-168378473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371310302	chr2:168378479-168378480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538991828	chr2:168378481-168378482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12992763	chr2:168378492-168378493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372353327	chr2:168378493-168378494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375354619	chr2:168378494-168378495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550521896	chr2:168378495-168378496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1227115	chr2:168378496-168378497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1227114	chr2:168378515-168378516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12992392	chr2:168378517-168378518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1431909	chr2:168378521-168378522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13018855	chr2:168378525-168378526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12992216	chr2:168378531-168378532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13018857	chr2:168378532-168378533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12992803	chr2:168378542-168378543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570690950	chr2:168378584-168378585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35748316	chr2:168378644-168378645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143419257	chr2:168378709-168378710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559550807	chr2:168378722-168378723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572066138	chr2:168378738-168378739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534793936	chr2:168378791-168378792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193099190	chr2:168378809-168378810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369556816	chr2:168378831-168378832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574866691	chr2:168378863-168378864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543689927	chr2:168378895-168378896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139356807	chr2:168378962-168378963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11902327	chr2:168378966-168378967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376023556	chr2:168379008-168379009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77686069	chr2:168379065-168379066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372688760	chr2:168379101-168379102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76824858	chr2:168379116-168379117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561674535	chr2:168379155-168379156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530615428	chr2:168379164-168379165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375380707	chr2:168379225-168379226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373863232	chr2:168379226-168379227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2052984	chr2:168379249-168379250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185305763	chr2:168379278-168379279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188593026	chr2:168379288-168379289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191689127	chr2:168379347-168379348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566423147	chr2:168379356-168379357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2052983	chr2:168379383-168379384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184246458	chr2:168379391-168379392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138447969	chr2:168379395-168379396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536537169	chr2:168379420-168379421	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168366600-168384800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168367000-168385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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