Variant report

Variant	rs2009639
Chromosome Location	chr2:179910433-179910434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1354385	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs340326	0.85[AMR][1000 genomes]
rs340328	0.85[AMR][1000 genomes]
rs340329	0.88[AMR][1000 genomes]
rs340330	0.83[AMR][1000 genomes]
rs340332	0.94[AMR][1000 genomes]
rs924801	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179897200-179910600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179897400-179910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:179897400-179913000	Weak transcription	Thymus	Thymus
4	chr2:179897400-179913400	Weak transcription	Fetal Thymus	thymus
5	chr2:179897400-179913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:179897600-179912600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:179897600-179913800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:179906800-179911600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:179907400-179913200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:179907600-179912800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:179908600-179910800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:179908800-179913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:179909200-179911200	Enhancers	Dnd41	blood
14	chr2:179909400-179910600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:179909400-179911000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:179909400-179911000	Weak transcription	Psoas Muscle	Psoas
17	chr2:179909400-179911000	Weak transcription	Right Ventricle	heart
18	chr2:179909400-179911000	Weak transcription	HSMMtube	muscle
19	chr2:179909400-179912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:179909400-179913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:179909400-179914000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:179909400-179914000	Weak transcription	Pancreas	Pancrea
23	chr2:179909400-179916000	Weak transcription	Spleen	Spleen
24	chr2:179909600-179910600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:179909600-179910600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:179909600-179910800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:179909600-179910800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:179909600-179910800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:179909600-179910800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:179909600-179911000	Weak transcription	Left Ventricle	heart
31	chr2:179909600-179912000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:179909600-179912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:179909600-179913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:179909600-179916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:179909800-179910600	Weak transcription	Primary T cells from cord blood	blood
36	chr2:179909800-179912000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:179910200-179911400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:179910200-179913000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:179910400-179910600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:179910400-179911200	Genic enhancers	Fetal Heart	heart
41	chr2:179910400-179911400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:179910400-179911400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:179910400-179911600	ZNF genes & repeats	GM12878-XiMat	blood
44	chr2:179910400-179912800	Enhancers	Primary B cells from cord blood	blood
45	chr2:179910400-179913400	Enhancers	Primary B cells from peripheral blood	blood

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