Variant report

Variant	rs12540267
Chromosome Location	chr7:70627876-70627877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1014092	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950245	0.88[ASN][1000 genomes]
rs10950246	0.90[ASN][1000 genomes]
rs10950248	0.90[ASN][1000 genomes]
rs12531756	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12539682	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12665914	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs12674459	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs17142542	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs2040970	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867041	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs2903460	0.90[ASN][1000 genomes]
rs34895774	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56344545	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60402344	0.90[ASN][1000 genomes]
rs6460641	0.90[ASN][1000 genomes]
rs7777592	0.90[ASN][1000 genomes]
rs7778265	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7804724	0.91[ASW][hapmap];0.88[CEU][hapmap];0.81[GIH][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][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	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70612000-70636400	Weak transcription	Ovary	ovary
2	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
3	chr7:70615200-70632800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70616000-70632800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70617600-70630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:70619800-70641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:70620200-70631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70620400-70639000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70623000-70630200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:70623000-70633000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:70623000-70639600	Weak transcription	Aorta	Aorta
12	chr7:70624800-70630800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:70626400-70630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:70627600-70628000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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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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