Variant report

Variant	rs9307591
Chromosome Location	chr4:127821694-127821695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127820287..127823577-chr4:127824043..127826421,3	K562	blood:
2	chr4:127821012..127822747-chr4:127823554..127826421,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10001654	0.82[AFR][1000 genomes]
rs10001724	1.00[EUR][1000 genomes]
rs10004199	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10010455	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10011774	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10015453	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10016117	0.81[YRI][hapmap]
rs10023546	0.88[YRI][hapmap]
rs10025698	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10029556	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10034583	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10049997	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11931739	1.00[EUR][1000 genomes]
rs11938581	0.88[AFR][1000 genomes]
rs11939670	0.82[AFR][1000 genomes]
rs11939679	0.85[AFR][1000 genomes]
rs11940406	0.85[AFR][1000 genomes]
rs1351427	1.00[EUR][1000 genomes]
rs1510679	0.95[AFR][1000 genomes]
rs17011862	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17012003	1.00[EUR][1000 genomes]
rs2136813	1.00[EUR][1000 genomes]
rs2391125	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28433391	1.00[EUR][1000 genomes]
rs28436662	1.00[EUR][1000 genomes]
rs28534874	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28627370	0.86[AFR][1000 genomes]
rs28644180	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28649494	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28652728	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28664583	0.82[AFR][1000 genomes]
rs28673719	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28688396	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28707514	1.00[EUR][1000 genomes]
rs28721329	0.91[AFR][1000 genomes]
rs28784913	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28852774	1.00[EUR][1000 genomes]
rs340445	1.00[EUR][1000 genomes]
rs340448	1.00[EUR][1000 genomes]
rs59500126	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6818157	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6829731	1.00[EUR][1000 genomes]
rs6838622	1.00[EUR][1000 genomes]
rs73848032	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73848033	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73848039	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7656486	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7665728	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7665975	0.81[AFR][1000 genomes]
rs7681131	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9307590	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964825	1.00[EUR][1000 genomes]
rs9884714	0.89[AFR][1000 genomes]
rs9884737	0.82[AFR][1000 genomes]
rs9992535	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127819000-127822200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:127819600-127821800	Enhancers	Fetal Muscle Leg	muscle
3	chr4:127819600-127821800	Enhancers	Osteobl	bone
4	chr4:127819600-127822400	Enhancers	NHDF-Ad	bronchial
5	chr4:127819800-127821800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:127819800-127821800	Enhancers	NHLF	lung
7	chr4:127820000-127821800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:127820600-127830000	Weak transcription	Fetal Brain Male	brain
9	chr4:127821200-127823000	Weak transcription	K562	blood
10	chr4:127821400-127823600	Weak transcription	HSMM	muscle
11	chr4:127821600-127821800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:127821600-127822200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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