Variant report

Variant	rs17688549
Chromosome Location	chr7:40857292-40857293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10499618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12154576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12155167	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17438725	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17439106	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17439448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17439553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17439595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17529882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17530234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17621020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17621117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621508	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs55641974	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55764442	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55832912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55834632	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55836921	0.82[ASN][1000 genomes]
rs55992488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948947	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6970230	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73689863	0.82[ASN][1000 genomes]
rs73689865	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73689870	0.82[ASN][1000 genomes]
rs73689875	0.82[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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:40855200-40864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40855600-40862400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40855600-40866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40855800-40866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:40856000-40862200	Weak transcription	Osteobl	bone
6	chr7:40856400-40857600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:40856400-40857600	Weak transcription	NHEK	skin
8	chr7:40856400-40865200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:40856800-40857600	Flanking Active TSS	HMEC	breast
10	chr7:40857000-40863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:40857200-40857400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:40857200-40857600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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