Variant report

Variant	rs316220
Chromosome Location	chr5:96423778-96423779
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	chr5:96422091..96424070-chr5:96427925..96429531,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10463198	0.81[CHB][hapmap]
rs11739416	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11739448	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11740941	0.85[ASN][1000 genomes]
rs11749186	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11750003	0.85[ASN][1000 genomes]
rs11958159	0.89[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs12109525	0.85[ASN][1000 genomes]
rs13154242	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13167931	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13173677	0.89[ASN][1000 genomes]
rs13175726	0.85[ASN][1000 genomes]
rs172723	0.87[ASN][1000 genomes]
rs172724	0.87[ASN][1000 genomes]
rs172725	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186414	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221970	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544775	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316179	0.83[ASN][1000 genomes]
rs316181	0.87[ASN][1000 genomes]
rs316182	0.85[ASN][1000 genomes]
rs316187	0.90[ASN][1000 genomes]
rs316188	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs316189	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs316206	0.89[JPT][hapmap]
rs316208	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs316211	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs316213	0.81[CHB][hapmap]
rs316216	0.87[ASN][1000 genomes]
rs316221	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316222	0.82[ASN][1000 genomes]
rs316225	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316226	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316228	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs421173	0.87[ASN][1000 genomes]
rs445037	0.87[ASN][1000 genomes]
rs7704410	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv969966	chr5:96418895-96427787	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96421800-96424800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:96421800-96425000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:96422400-96423800	Enhancers	Fetal Lung	lung
4	chr5:96422600-96425400	Strong transcription	Primary B cells from cord blood	blood
5	chr5:96422600-96426400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:96423000-96424200	Enhancers	K562	blood
7	chr5:96423000-96424200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:96423200-96424200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:96423200-96430200	Weak transcription	Fetal Muscle Leg	muscle

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