Variant report

Variant	rs3128550
Chromosome Location	chr1:72488648-72488649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:72488016..72488819-chr1:72503014..72503883,2	K562	blood:
2	chr1:72483188..72484849-chr1:72487728..72489377,2	K562	blood:
3	chr1:72487764..72489951-chr1:72495667..72497783,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1016126	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889934	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889936	0.81[ASN][1000 genomes]
rs10889938	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426173	0.86[EUR][1000 genomes]
rs1486089	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1486099	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1486100	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1486102	0.87[ASN][1000 genomes]
rs1486113	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812738	0.81[ASN][1000 genomes]
rs1843582	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1937185	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1937189	0.81[ASN][1000 genomes]
rs2052722	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256783	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2422058	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2422059	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489821	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2554417	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2630389	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630411	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2630417	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2630418	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2768376	0.88[EUR][1000 genomes]
rs2768378	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2768395	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2801322	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2801328	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102905	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102908	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102911	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102917	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102923	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102926	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3128557	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4111091	0.81[ASN][1000 genomes]
rs6424453	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6424454	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7511981	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7544722	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544750	0.81[ASN][1000 genomes]
rs7550950	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv546478	chr1:72442018-72512391	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72476200-72488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:72484600-72489600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:72484800-72490200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:72488400-72490800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:72488600-72488800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:72488600-72488800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:72488600-72489000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:72488600-72489000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:72488600-72489000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:72488600-72489000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:72488600-72489400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:72488600-72489600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:72488600-72489800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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