Variant report

Variant	rs790839
Chromosome Location	chr5:127088838-127088839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126989537..126992497-chr5:127087410..127089505,2	K562	blood:
2	chr5:127088829..127090335-chr5:127536854..127538369,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1002214	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10044507	1.00[ASN][1000 genomes]
rs10066288	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10067219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1067705	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1086479	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1092294	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1213745	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13155734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356121	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432641	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432642	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464132	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1616107	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2673770	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6867166	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6878186	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711361	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs711363	0.95[CEU][hapmap]
rs711364	0.95[CEU][hapmap];0.89[JPT][hapmap]
rs711369	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7729013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790829	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs790834	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs790840	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790841	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs796919	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs806464	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs810996	0.84[AMR][1000 genomes];0.93[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:127076000-127094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127088400-127089000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:127088400-127089000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:127088400-127089200	Active TSS	K562	blood
5	chr5:127088600-127089000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:127088600-127089000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:127088600-127089200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:127088600-127089200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:127088600-127089400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:127088600-127089600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:127088600-127090800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:127088800-127089200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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