Variant report

Variant	rs17171616
Chromosome Location	chr7:39751399-39751400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39745397..39755065-chr7:39757582..39762895,14	K562	blood:
2	chr7:39749808..39754234-chr7:39754271..39757500,4	K562	blood:
3	chr7:39747835..39755058-chr7:39757872..39764388,13	K562	blood:
4	chr7:39662003..39663516-chr7:39750474..39753240,2	K562	blood:
5	chr7:39747576..39749380-chr7:39750182..39752361,2	K562	blood:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10231409	0.89[JPT][hapmap]
rs10486799	1.00[GIH][hapmap]
rs10486802	0.89[JPT][hapmap]
rs17416875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17507811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17508730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509194	0.91[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs17714061	0.82[GIH][hapmap]
rs3779203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56719666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509649	0.84[AFR][1000 genomes]
rs59341821	0.88[AFR][1000 genomes]
rs73377485	0.85[EUR][1000 genomes]
rs73381116	0.84[AFR][1000 genomes]
rs73381118	0.84[AFR][1000 genomes]
rs73381122	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73381129	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73381131	0.84[AFR][1000 genomes]
rs73387331	0.84[AFR][1000 genomes]
rs73387334	0.82[AFR][1000 genomes]
rs73387337	0.84[AFR][1000 genomes]
rs73387350	0.84[AFR][1000 genomes]
rs73387354	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387357	0.84[AFR][1000 genomes]
rs73387375	0.84[AFR][1000 genomes]
rs73389244	0.88[AFR][1000 genomes]
rs73389259	0.88[AFR][1000 genomes]
rs7796021	0.89[JPT][hapmap]
rs7799721	0.89[JPT][hapmap]

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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr7:39740200-39752000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:39741200-39753000	Weak transcription	Spleen	Spleen
3	chr7:39748200-39752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:39749000-39752800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:39749800-39752200	Weak transcription	HUVEC	blood vessel
6	chr7:39750000-39753000	Weak transcription	Stomach Mucosa	stomach
7	chr7:39750400-39751400	Weak transcription	Fetal Lung	lung
8	chr7:39750400-39751600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:39751200-39752200	Weak transcription	Fetal Stomach	stomach

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