Variant report

Variant	rs172710
Chromosome Location	chr14:80033086-80033087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs170246	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs170247	0.91[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs2008386	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194617	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221414	0.84[ASW][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs221417	0.92[ASW][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs221426	0.83[CEU][hapmap]
rs2543578	1.00[MEX][hapmap];0.87[MKK][hapmap]
rs2552415	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs918938	0.92[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
3	chr14:80027400-80034400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:80027600-80036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:80028200-80034600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:80028200-80034800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:80029000-80034400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:80029000-80034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:80029400-80034800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:80030400-80033800	Weak transcription	Brain Germinal Matrix	brain
11	chr14:80032600-80034800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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