Variant report

Variant	rs2197244
Chromosome Location	chr17:66797362-66797363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2197242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968951	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968952	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4968954	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968958	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55691656	0.87[ASN][1000 genomes]
rs55925740	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7207844	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210000	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8068546	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8074899	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8076838	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081848	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8182251	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902776	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs993496	1.00[EUR][1000 genomes];0.98[ASN][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66788000-66805800	Weak transcription	Right Atrium	heart
2	chr17:66791600-66797800	Weak transcription	Ovary	ovary
3	chr17:66792400-66798000	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:66792600-66803200	Weak transcription	HepG2	liver
5	chr17:66793800-66799400	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:66796600-66797400	Enhancers	Osteobl	bone
7	chr17:66796800-66797800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:66796800-66798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:66797000-66797400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:66797000-66803200	Weak transcription	Adipose Nuclei	Adipose

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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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