Variant report

Variant	rs6949142
Chromosome Location	chr7:109251487-109251488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10264734	0.89[ASN][1000 genomes]
rs12537605	0.89[ASN][1000 genomes]
rs12540076	0.89[ASN][1000 genomes]
rs1357690	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405064	0.82[ASN][1000 genomes]
rs1405065	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464743	0.84[CHB][hapmap];0.91[CHD][hapmap];0.91[ASN][1000 genomes]
rs1524280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1568778	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626408	0.84[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721418	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721420	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721422	0.84[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1721424	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721425	0.84[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721426	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1721431	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1721452	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1721454	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1721456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1721925	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1721934	0.84[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721936	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1721938	0.81[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1721941	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721945	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1721946	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721950	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721951	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1721953	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250798	0.96[ASN][1000 genomes]
rs2396136	0.92[ASN][1000 genomes]
rs2396137	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2690360	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2690372	0.87[ASN][1000 genomes]
rs2690376	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730395	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7797247	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	nsv1023379	chr7:109003574-109355234	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv608079	chr7:109098364-109862289	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1020761	chr7:109208187-109275700	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1017184	chr7:109240101-109350011	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109240800-109261800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:109250200-109253000	Enhancers	Dnd41	blood
3	chr7:109250400-109252600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:109251000-109252000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:109251200-109252000	Enhancers	HUES64 Cell Line	embryonic stem cell

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