Variant report

Variant	nsv519947
Chromosome Location	chr2:76537604-76588942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:
2	chr2:76536543..76538658-chr2:76539286..76540999,2	MCF-7	breast:
3	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:
4	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:
5	chr2:76536543..76538658-chr2:76539286..76540999,2	MCF-7	breast:
6	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:

Extended variants
information (count: 880 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs885187	chr2:76537604-76537605	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539220042	chr2:76537609-76537610	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181834093	chr2:76537613-76537614	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557647347	chr2:76537629-76537630	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13413155	chr2:76537636-76537637	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13413156	chr2:76537639-76537640	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566710979	chr2:76537656-76537657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13413280	chr2:76537750-76537751	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2139467	chr2:76537758-76537759	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372797668	chr2:76537763-76537764	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144338026	chr2:76537785-76537786	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367662058	chr2:76537794-76537795	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573539963	chr2:76537796-76537797	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6727945	chr2:76537799-76537800	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556265222	chr2:76537823-76537824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371784409	chr2:76537841-76537842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546380356	chr2:76537870-76537871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139473397	chr2:76537896-76537897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144986783	chr2:76537930-76537931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10193674	chr2:76537943-76537944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2860735	chr2:76537978-76537979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529231719	chr2:76538013-76538014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527536914	chr2:76538022-76538023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3053115	chr2:76538047-76538048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573753667	chr2:76538077-76538078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149742759	chr2:76538087-76538088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532961258	chr2:76538101-76538102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551598169	chr2:76538114-76538115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373050276	chr2:76538141-76538142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13429743	chr2:76538214-76538215	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145582749	chr2:76538224-76538225	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555351631	chr2:76538269-76538270	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186393723	chr2:76538374-76538375	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189712524	chr2:76538414-76538415	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs73937017	chr2:76538489-76538490	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148870530	chr2:76538494-76538495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552049757	chr2:76538522-76538523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558370833	chr2:76538550-76538551	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570453929	chr2:76538586-76538587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145065810	chr2:76538624-76538625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537627619	chr2:76538643-76538644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181040338	chr2:76538676-76538677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138847312	chr2:76538695-76538696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573714625	chr2:76538710-76538711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544162249	chr2:76538734-76538735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375683570	chr2:76538738-76538739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562538370	chr2:76538745-76538746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6732093	chr2:76538767-76538768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551565368	chr2:76538801-76538802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560322773	chr2:76538819-76538820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76536800-76537800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:76537000-76542400	Enhancers	Hela-S3	cervix
3	chr2:76537800-76538200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:76538000-76538400	Enhancers	Fetal Muscle Leg	muscle
5	chr2:76538200-76538400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76538400-76538600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:76538400-76538600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:76538600-76539000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:76538600-76539200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:76539000-76539200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:76539200-76539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:76539200-76540400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:76543800-76544000	Enhancers	Fetal Heart	heart
14	chr2:76543800-76544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:76544000-76544200	Flanking Active TSS	Fetal Heart	heart
16	chr2:76544000-76544400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:76544200-76544600	Enhancers	Fetal Heart	heart
18	chr2:76544600-76546000	Weak transcription	Fetal Heart	heart
19	chr2:76546000-76546400	Enhancers	Fetal Heart	heart
20	chr2:76549600-76551200	Enhancers	Fetal Brain Male	brain
21	chr2:76550200-76551200	Enhancers	Fetal Brain Female	brain
22	chr2:76550600-76551000	Enhancers	Hela-S3	cervix
23	chr2:76551200-76552800	Weak transcription	Fetal Brain Male	brain
24	chr2:76552800-76553000	Enhancers	Fetal Brain Male	brain
25	chr2:76557000-76557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:76577800-76578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:76578400-76579200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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