Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38109776..38112089-chr7:38114785..38117105,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10499601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11509900	0.88[EUR][1000 genomes]
rs12114004	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154511	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403983	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524051	0.81[EUR][1000 genomes]
rs1524052	0.81[EUR][1000 genomes]
rs17171277	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949774	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2140532	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392527	0.81[EUR][1000 genomes]
rs4430011	0.81[EUR][1000 genomes]
rs61618798	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73691906	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73691971	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691975	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952368	0.81[EUR][1000 genomes]
rs952369	0.81[EUR][1000 genomes]
rs9648058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv606624	chr7:38067723-38123667	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv887962	chr7:38093233-38203341	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv525236	chr7:38105033-38123667	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38108600-38110600	Weak transcription	HSMMtube	muscle
2	chr7:38109000-38110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:38109800-38110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:38110000-38110800	Enhancers	Brain Germinal Matrix	brain
5	chr7:38110000-38111000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:38110000-38111200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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