Variant report

Variant	rs11771079
Chromosome Location	chr7:124905060-124905061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124904732..124906870-chr7:124909560..124912125,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1020629	1.00[CHB][hapmap];0.85[MKK][hapmap]
rs10500102	0.94[CHB][hapmap]
rs10954068	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108984	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11768346	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1248737	0.93[CHB][hapmap]
rs1377811	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1427580	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525620	0.92[CHB][hapmap]
rs1552116	0.94[CHB][hapmap]
rs1552117	0.94[CHB][hapmap]
rs34246481	1.00[CHB][hapmap]
rs35403731	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4370475	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57452500	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57797060	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs612391	0.93[CHB][hapmap]
rs627823	0.93[CHB][hapmap]
rs6466996	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs650653	0.94[CHB][hapmap]
rs651988	1.00[CHB][hapmap]
rs663056	0.94[CHB][hapmap]
rs664062	1.00[CHB][hapmap]
rs6965196	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6973753	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7776954	0.88[ASN][1000 genomes]
rs7797011	1.00[CHB][hapmap]
rs9785002	1.00[CHB][hapmap]
rs9942625	0.93[CHB][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11771079	KCP	cis	cerebellum	SCAN
rs11771079	POT1	cis	cerebellum	SCAN
rs11771079	LRRC4	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124901200-124906400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124903600-124905200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:124904000-124905200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:124904800-124905200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:124904800-124905200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:124904800-124905400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:124904800-124906000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:124905000-124905200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:124905000-124905800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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