Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124904732..124906870-chr7:124909560..124912125,2	K562	blood:
2	chr7:124855825..124857755-chr7:124906299..124909207,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10224592	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10229577	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10236406	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10251588	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10278258	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279685	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280078	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108985	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11534064	0.86[CHB][hapmap]
rs11766690	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706645	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17148089	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17148097	0.92[ASN][1000 genomes]
rs17148099	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17327715	0.86[CHB][hapmap]
rs17329417	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17387389	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17387591	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2054586	0.81[CHB][hapmap]
rs2293346	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3214004	0.81[CHB][hapmap]
rs62477088	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62477090	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs650030	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs669064	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs685345	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs6948171	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7807531	0.84[EUR][1000 genomes];0.89[ASN][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	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024270	chr7:124900057-124945551	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17148072	TNPO3	cis	cerebellum	SCAN
rs17148072	WASL	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124905200-124908400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:124905800-124908600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:124906000-124908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:124906200-124907000	Enhancers	Fetal Lung	lung
5	chr7:124906200-124908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:124906400-124912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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