Variant report

Variant	nsv875600
Chromosome Location	chr2:188857787-188893936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:
2	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:

Extended variants
information (count: 1198 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1198 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1439563	chr2:188857787-188857788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540996057	chr2:188857935-188857936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190850255	chr2:188857980-188857981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183949018	chr2:188858039-188858040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145416481	chr2:188858191-188858192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543455927	chr2:188858243-188858244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565338415	chr2:188858255-188858256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564726513	chr2:188858273-188858274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530660496	chr2:188858288-188858289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145779140	chr2:188858303-188858304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115504015	chr2:188858340-188858341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541593010	chr2:188858369-188858370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147699920	chr2:188858386-188858387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77897619	chr2:188858436-188858437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548872658	chr2:188858463-188858464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188798809	chr2:188858465-188858466	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10178187	chr2:188858590-188858591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551928188	chr2:188858603-188858604	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570525478	chr2:188858644-188858645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534446558	chr2:188858651-188858652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561175820	chr2:188858653-188858654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550458799	chr2:188858766-188858767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546756501	chr2:188858793-188858794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567878115	chr2:188858797-188858798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535285795	chr2:188858843-188858844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375805779	chr2:188858852-188858853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575183138	chr2:188858874-188858875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537443080	chr2:188858880-188858881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140693318	chr2:188858890-188858891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199664775	chr2:188858911-188858912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577254482	chr2:188858924-188858925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397869449	chr2:188858928-188858929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368602587	chr2:188858994-188858995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559909564	chr2:188859015-188859016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575040395	chr2:188859050-188859051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545331745	chr2:188859077-188859078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191930778	chr2:188859102-188859103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6744217	chr2:188859138-188859139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531157562	chr2:188859139-188859140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552131171	chr2:188859146-188859147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6757709	chr2:188859148-188859149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528102541	chr2:188859149-188859150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546257600	chr2:188859207-188859208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567817713	chr2:188859266-188859267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563476653	chr2:188859280-188859281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535232026	chr2:188859291-188859292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550400993	chr2:188859303-188859304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114203982	chr2:188859338-188859339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13017400	chr2:188859405-188859406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184467110	chr2:188859436-188859437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188851600-188858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:188851800-188858400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:188852000-188859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:188855000-188859200	Weak transcription	GM12878-XiMat	blood
9	chr2:188855200-188858400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:188855200-188858800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:188855200-188859200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:188855200-188859400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:188855400-188858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:188855400-188858400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:188855400-188858400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:188855400-188859400	Weak transcription	Fetal Thymus	thymus
17	chr2:188855400-188860000	Enhancers	Primary T cells from cord blood	blood
18	chr2:188856000-188860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:188857000-188859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:188857200-188858200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:188857400-188857800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:188857400-188857800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:188857400-188858400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:188857600-188860200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:188857800-188859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:188858200-188858400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:188858200-188858600	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:188858200-188858800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:188858200-188859000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:188858200-188860000	Enhancers	HSMMtube	muscle
35	chr2:188858200-188860200	Enhancers	Fetal Muscle Leg	muscle
36	chr2:188858200-188860400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
38	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:188858400-188858600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:188858400-188858600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:188858400-188858600	Enhancers	Brain Hippocampus Middle	brain
42	chr2:188858400-188858800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:188858400-188858800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:188858400-188859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:188858400-188859000	Enhancers	NHDF-Ad	bronchial
46	chr2:188858400-188859400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:188858400-188860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:188858400-188860400	Enhancers	Brain Anterior Caudate	brain
49	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:188858600-188859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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