Variant report

Variant	rs9992624
Chromosome Location	chr4:75197415-75197416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:75193547..75202304-chr4:75225099..75233434,18	K562	blood:
2	chr4:75195874..75197815-chr4:75217759..75219523,2	K562	blood:
3	chr4:75196361..75198336-chr4:75221116..75223874,2	K562	blood:
4	chr4:75196510..75198336-chr4:75220610..75222616,2	K562	blood:
5	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
6	chr4:75195893..75197465-chr4:75242238..75243930,2	K562	blood:
7	chr4:75195012..75198024-chr4:75202040..75205774,3	K562	blood:
8	chr4:75196204..75197946-chr4:75212119..75215441,3	K562	blood:
9	chr4:75196224..75197946-chr4:75213014..75215441,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10006685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10011730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10014791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10015148	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1246576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246583	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246589	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246596	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1460004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1542468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16850833	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16850864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16850866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16850885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16850898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850903	0.95[ASN][1000 genomes]
rs16850918	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2611754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28382340	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28417935	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28423375	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28434222	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28462312	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28588511	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28663170	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28721942	0.83[EUR][1000 genomes]
rs28788278	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs492042	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56667969	0.95[ASN][1000 genomes]
rs572987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs579866	1.00[CEU][hapmap]
rs6821364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6845763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs734222	1.00[CEU][hapmap]
rs7656041	0.95[ASN][1000 genomes]
rs7656313	0.85[ASN][1000 genomes]
rs7665228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7670644	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689369	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7694828	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9683437	0.95[ASN][1000 genomes]
rs9884572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9884653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9993008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75194600-75209400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:75195000-75209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:75196200-75208000	Weak transcription	NHEK	skin
4	chr4:75196800-75199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:75197400-75197800	Active TSS	K562	blood
6	chr4:75197400-75199200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:75197400-75199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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