Variant report

Variant	rs10216080
Chromosome Location	chr7:70686421-70686422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10224093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237330	0.85[ASN][1000 genomes]
rs10237940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260271	0.84[ASN][1000 genomes]
rs10269157	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10281055	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11975543	0.88[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12333866	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17142901	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17142911	0.92[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17142946	0.88[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs28468498	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28633086	0.83[ASN][1000 genomes]
rs56964859	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57346600	0.84[ASN][1000 genomes]
rs60605389	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61336371	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73365963	0.84[ASN][1000 genomes]
rs7786009	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7790269	0.94[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7805734	0.88[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7807224	0.94[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70667000-70701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70671400-70688600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:70683400-70686800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:70684200-70692400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:70685600-70686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:70685600-70687200	Enhancers	Colon Smooth Muscle	Colon
7	chr7:70685600-70689200	Enhancers	Ovary	ovary
8	chr7:70685600-70691200	Weak transcription	Left Ventricle	heart
9	chr7:70685800-70689600	Weak transcription	Aorta	Aorta
10	chr7:70686000-70692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:70686400-70686800	Enhancers	H9 Cell Line	embryonic stem cell

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