Variant report

Variant	rs17142542
Chromosome Location	chr7:70619951-70619952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1014092	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10950245	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950246	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950247	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10950248	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761504	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11764450	0.91[EUR][1000 genomes]
rs11976791	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12112578	0.89[ASN][1000 genomes]
rs12531756	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534934	0.89[ASN][1000 genomes]
rs12539682	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12540267	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs12665914	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667144	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12674459	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17519859	0.89[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2040970	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28522967	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2867040	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2867041	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903460	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34319895	0.89[ASN][1000 genomes]
rs34895774	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56344545	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60402344	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460641	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460642	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943535	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs728136	0.85[CEU][hapmap];0.86[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777592	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801027	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7804724	0.85[CHB][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs7809074	0.89[ASN][1000 genomes]
rs7809410	0.81[ASN][1000 genomes]
rs7810194	0.89[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	esv17913	chr7:70619910-70624629	Enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17142542	BCL7B	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70611600-70623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70611800-70620200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:70612000-70636400	Weak transcription	Ovary	ovary
4	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
5	chr7:70613400-70622600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:70613400-70624600	Weak transcription	Right Atrium	heart
7	chr7:70615000-70622400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:70615200-70632800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:70615400-70620600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:70616000-70632800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:70616200-70620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:70616200-70621800	Weak transcription	Fetal Stomach	stomach
13	chr7:70617400-70620200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:70617600-70622600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:70617600-70624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:70617600-70630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:70619800-70641800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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