Variant report

Variant	nsv874314
Chromosome Location	chr2:76548341-76598587
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	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
3	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
4	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
5	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:
6	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:

Extended variants
information (count: 672 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542751064	chr2:76549638-76549639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561472617	chr2:76549642-76549643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139081303	chr2:76549647-76549648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112549092	chr2:76549669-76549670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527240566	chr2:76549734-76549735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72923560	chr2:76549777-76549778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531019726	chr2:76549847-76549848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11896158	chr2:76549880-76549881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146023364	chr2:76549896-76549897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546370126	chr2:76549948-76549949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569418249	chr2:76549954-76549955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539760327	chr2:76549957-76549958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540256372	chr2:76550028-76550029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572904038	chr2:76550098-76550099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565207490	chr2:76550102-76550103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540191948	chr2:76550106-76550107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182757305	chr2:76550120-76550121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139927963	chr2:76550128-76550129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550722719	chr2:76550196-76550197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374000803	chr2:76550210-76550211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149709058	chr2:76550226-76550227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562559454	chr2:76550297-76550298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10171569	chr2:76550331-76550332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56053575	chr2:76550348-76550349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556388358	chr2:76550388-76550389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548798113	chr2:76550393-76550394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76512573	chr2:76550398-76550399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527575243	chr2:76550401-76550402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549046081	chr2:76550458-76550459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377551200	chr2:76550511-76550512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567233362	chr2:76550519-76550520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531341812	chr2:76550532-76550533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534579043	chr2:76550614-76550615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549812036	chr2:76550646-76550647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188592196	chr2:76550661-76550662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539597618	chr2:76550687-76550688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192956459	chr2:76550729-76550730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145249826	chr2:76550739-76550740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534214864	chr2:76550744-76550745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555368335	chr2:76550753-76550754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185678674	chr2:76550754-76550755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34466977	chr2:76550756-76550757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537977319	chr2:76550758-76550759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148756602	chr2:76550774-76550775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544653179	chr2:76550805-76550806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577774641	chr2:76550840-76550841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545265427	chr2:76550860-76550861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560386508	chr2:76550867-76550868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142334848	chr2:76550892-76550893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542929132	chr2:76550915-76550916	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76549600-76551200	Enhancers	Fetal Brain Male	brain
2	chr2:76550200-76551200	Enhancers	Fetal Brain Female	brain
3	chr2:76550600-76551000	Enhancers	Hela-S3	cervix
4	chr2:76551200-76552800	Weak transcription	Fetal Brain Male	brain
5	chr2:76552800-76553000	Enhancers	Fetal Brain Male	brain
6	chr2:76557000-76557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:76577800-76578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:76578400-76579200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:76595800-76596000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:76596000-76604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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