Variant report

Variant	nsv979144
Chromosome Location	chr2:168399913-168403338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs146593974	chr2:168399924-168399925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76753777	chr2:168399941-168399942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557054099	chr2:168399959-168399960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557034635	chr2:168400002-168400003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575295403	chr2:168400003-168400004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185444930	chr2:168400004-168400005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140917741	chr2:168400013-168400014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562557229	chr2:168400027-168400028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532758251	chr2:168400040-168400041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531504465	chr2:168400097-168400098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1227125	chr2:168400197-168400198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530063571	chr2:168400203-168400204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537768802	chr2:168400211-168400212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570148038	chr2:168400217-168400218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532470450	chr2:168400237-168400238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552738992	chr2:168400266-168400267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566319636	chr2:168400296-168400297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73026020	chr2:168400304-168400305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534071723	chr2:168400326-168400327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75818286	chr2:168400338-168400339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190252348	chr2:168400358-168400359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537059559	chr2:168400361-168400362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181343472	chr2:168400363-168400364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200686424	chr2:168400372-168400373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116125515	chr2:168400387-168400388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370224256	chr2:168400444-168400445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377611694	chr2:168400491-168400492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559994044	chr2:168400504-168400505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373355551	chr2:168400506-168400507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545541109	chr2:168400536-168400537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553022436	chr2:168400566-168400567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185938086	chr2:168400582-168400583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73026021	chr2:168400600-168400601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561679711	chr2:168400619-168400620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190809931	chr2:168400630-168400631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144655635	chr2:168400649-168400650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62196687	chr2:168400739-168400740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532530071	chr2:168400797-168400798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7592303	chr2:168400848-168400849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183862685	chr2:168400852-168400853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528732917	chr2:168400864-168400865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537908172	chr2:168400874-168400875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188072948	chr2:168400912-168400913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568793031	chr2:168400956-168400957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537300217	chr2:168400958-168400959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148200621	chr2:168400963-168400964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535698627	chr2:168400979-168400980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570392730	chr2:168401000-168401001	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539414229	chr2:168401047-168401048	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559265868	chr2:168401099-168401100	Weak transcription Strong transcription Active TSS	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168385600-168400400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168385600-168411600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168393400-168400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:168393400-168412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:168393600-168401200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:168394600-168400400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:168398400-168407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:168398600-168407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:168399800-168408000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:168400400-168401400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:168400400-168402000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:168400400-168405000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:168400600-168401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:168401000-168401600	Active TSS	K562	blood
17	chr2:168401200-168401400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:168401400-168402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:168401400-168412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:168401800-168404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:168402000-168407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:168402600-168403800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:168402800-168403600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:168402800-168403600	Enhancers	HepG2	liver
26	chr2:168403000-168403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:168403200-168408600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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