Variant report

Variant	rs551994
Chromosome Location	chr7:80800168-80800169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs327682	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327687	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327692	1.00[CHB][hapmap]
rs327695	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327696	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327699	1.00[CHB][hapmap]
rs327709	0.92[EUR][1000 genomes]
rs471783	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492377	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500454	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512906	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517609	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7455610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996720	1.00[EUR][1000 genomes];1.00[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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80792600-80803000	Weak transcription	K562	blood
2	chr7:80798800-80800200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:80798800-80800200	Enhancers	A549	lung
4	chr7:80799400-80800200	Enhancers	NHLF	lung
5	chr7:80799600-80800200	Enhancers	NH-A	brain
6	chr7:80799800-80800200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:80799800-80800200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:80800000-80802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80800000-80802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:80800000-80802800	Weak transcription	Osteobl	bone
11	chr7:80800000-80803000	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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