Variant report

Variant	nsv584043
Chromosome Location	chr2:188837548-188896397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188848294..188849796-chr2:188850088..188853065,2	MCF-7	breast:
2	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:
3	chr2:188848294..188849796-chr2:188850088..188853065,2	MCF-7	breast:
4	chr2:188836688..188838799-chr2:188840034..188842533,2	MCF-7	breast:
5	chr2:188848430..188851142-chr2:188854164..188855843,2	K562	blood:
6	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:
7	chr2:188836688..188838799-chr2:188840034..188842533,2	MCF-7	breast:
8	chr2:188848430..188852536-chr2:188854164..188857250,4	K562	blood:
9	chr2:188848430..188852536-chr2:188854164..188857250,4	K562	blood:
10	chr2:188848430..188851142-chr2:188854164..188855843,2	K562	blood:

No data

Extended variants
information (count: 1989 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1989 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2350195	chr2:188837548-188837549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1516118	chr2:188837575-188837576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147804163	chr2:188837690-188837691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373703508	chr2:188837715-188837716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372030242	chr2:188837729-188837730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115801793	chr2:188837803-188837804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139433700	chr2:188837809-188837810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544047151	chr2:188837823-188837824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11692032	chr2:188837859-188837860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568732414	chr2:188837860-188837861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149888206	chr2:188837922-188837923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550294035	chr2:188838025-188838026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568866881	chr2:188838026-188838027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36065878	chr2:188838029-188838030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539136667	chr2:188838037-188838038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145085642	chr2:188838038-188838039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574869711	chr2:188838082-188838083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75161763	chr2:188838084-188838085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112179956	chr2:188838165-188838166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182888237	chr2:188838281-188838282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527383417	chr2:188838290-188838291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544535933	chr2:188838292-188838293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187733411	chr2:188838314-188838315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548383583	chr2:188838327-188838328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545900752	chr2:188838340-188838341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564539550	chr2:188838387-188838388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528607195	chr2:188838401-188838402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547171270	chr2:188838444-188838445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74867701	chr2:188838457-188838458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67562303	chr2:188838458-188838459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75821035	chr2:188838459-188838460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78225808	chr2:188838473-188838474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11884975	chr2:188838490-188838491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529542290	chr2:188838494-188838495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551282520	chr2:188838499-188838500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115243047	chr2:188838500-188838501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532904910	chr2:188838584-188838585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12999094	chr2:188838592-188838593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566182010	chr2:188838648-188838649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533686550	chr2:188838659-188838660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555132950	chr2:188838676-188838677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567488874	chr2:188838749-188838750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149124409	chr2:188838799-188838800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74323074	chr2:188838814-188838815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560589207	chr2:188838828-188838829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577876773	chr2:188838840-188838841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546140686	chr2:188838876-188838877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191077855	chr2:188838889-188838890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573374060	chr2:188838915-188838916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540761353	chr2:188838953-188838954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188827600-188841200	Weak transcription	Aorta	Aorta
2	chr2:188837400-188840400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:188838600-188838800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:188838600-188839000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:188838800-188839200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:188838800-188841000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:188839000-188841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:188839200-188841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:188840400-188843400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:188841000-188841200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:188841000-188841400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:188841000-188842800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:188841000-188843000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:188841000-188843200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:188841000-188843400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:188841000-188843400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:188841200-188841600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:188841200-188841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:188841200-188841600	Enhancers	Aorta	Aorta
20	chr2:188841200-188842000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:188841200-188842200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:188841200-188842200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:188841200-188842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:188841200-188843200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:188841400-188841800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:188841400-188841800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:188841400-188843200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:188841600-188842600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:188841600-188847000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:188841800-188843000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:188841800-188844200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:188842000-188842800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:188842200-188843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:188842200-188843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:188842600-188843000	Enhancers	Pancreas	Pancrea
36	chr2:188842600-188843200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:188842800-188851000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:188843000-188843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:188843200-188850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:188843200-188851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:188843400-188850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:188843400-188850400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:188843400-188850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:188843600-188850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:188844200-188850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:188846800-188848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:188846800-188848600	Enhancers	Liver	Liver
48	chr2:188847000-188848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:188847000-188848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:188847200-188848200	Enhancers	Osteobl	bone

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