Variant report

Variant	nsv582224
Chromosome Location	chr2:76580601-76620126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
2	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
3	chr2:76615182..76615716-chr4:38819540..38820084,2	MCF-7	breast:
4	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
5	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
6	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:

Extended variants
information (count: 803 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6730042	chr2:76580601-76580602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573213897	chr2:76580605-76580606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540247384	chr2:76580615-76580616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184277723	chr2:76580632-76580633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12465830	chr2:76580676-76580677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150117564	chr2:76580708-76580709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541389682	chr2:76580709-76580710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560761332	chr2:76580722-76580723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562632298	chr2:76580724-76580725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532973189	chr2:76580737-76580738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189032760	chr2:76580750-76580751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574248457	chr2:76580758-76580759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543349500	chr2:76580760-76580761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563127847	chr2:76580882-76580883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115327503	chr2:76580886-76580887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548538037	chr2:76580892-76580893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567045105	chr2:76580996-76580997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146682352	chr2:76581028-76581029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557144428	chr2:76581055-76581056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181751209	chr2:76581070-76581071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140235324	chr2:76581089-76581090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145292284	chr2:76581142-76581143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187196771	chr2:76581232-76581233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79927983	chr2:76581236-76581237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551773124	chr2:76581299-76581300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137876149	chr2:76581303-76581304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11126521	chr2:76581342-76581343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574191094	chr2:76581356-76581357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13418452	chr2:76581362-76581363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562967737	chr2:76581382-76581383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374375405	chr2:76581417-76581418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533180526	chr2:76581474-76581475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544861504	chr2:76581485-76581486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560413965	chr2:76581498-76581499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527565568	chr2:76581502-76581503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548573762	chr2:76581503-76581504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192030909	chr2:76581505-76581506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531199505	chr2:76581553-76581554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72925552	chr2:76581611-76581612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571237256	chr2:76581638-76581639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540037491	chr2:76581655-76581656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558040420	chr2:76581659-76581660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78128128	chr2:76581752-76581753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180727916	chr2:76581770-76581771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556085964	chr2:76581787-76581788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574129998	chr2:76581823-76581824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34505553	chr2:76581858-76581859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185012302	chr2:76581901-76581902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4852403	chr2:76581908-76581909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs578009735	chr2:76581910-76581911	Enhancers Weak transcription	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:76595800-76596000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:76596000-76604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:76604600-76604800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:76604800-76605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:76605800-76606200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:76607200-76609200	Enhancers	Fetal Heart	heart
17	chr2:76613000-76613600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:76618200-76619800	Enhancers	Fetal Heart	heart
19	chr2:76618400-76619200	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:76618400-76619400	Enhancers	HepG2	liver
21	chr2:76618600-76619200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:76618600-76619200	Enhancers	Small Intestine	intestine
23	chr2:76618600-76619200	Enhancers	Stomach Mucosa	stomach
24	chr2:76618600-76619400	Enhancers	Fetal Intestine Small	intestine
25	chr2:76618800-76619400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:76619200-76624400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:76619400-76624200	Weak transcription	Fetal Intestine Small	intestine

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