Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96720160..96722789-chr4:96726350..96727999,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10006978	0.81[EUR][1000 genomes]
rs11097483	0.89[EUR][1000 genomes]
rs11931750	0.83[EUR][1000 genomes]
rs11931752	0.83[EUR][1000 genomes]
rs17024535	0.83[EUR][1000 genomes]
rs17024571	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961771	0.81[EUR][1000 genomes]
rs2043654	0.92[EUR][1000 genomes]
rs2043655	0.81[EUR][1000 genomes]
rs28516597	0.92[EUR][1000 genomes]
rs28841026	0.83[EUR][1000 genomes]
rs4597837	0.92[EUR][1000 genomes]
rs56166497	0.81[EUR][1000 genomes]
rs59407834	0.83[EUR][1000 genomes]
rs716720	0.92[EUR][1000 genomes]
rs73839603	0.81[EUR][1000 genomes]
rs73842171	0.92[EUR][1000 genomes]
rs7655617	0.83[EUR][1000 genomes]
rs7668426	0.81[EUR][1000 genomes]
rs7681417	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830012	chr4:96547783-96746163	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv997304	chr4:96575198-96861349	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1010830	chr4:96607025-96862878	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv537191	chr4:96607025-96862878	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv594915	chr4:96628653-97086618	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv428767	chr4:96676384-96831793	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1014030	chr4:96721030-96735608	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11946552	DAPP1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96720000-96721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:96721000-96721200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:96721000-96721400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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