Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10512306	0.88[ASN][1000 genomes]
rs10990347	0.95[ASN][1000 genomes]
rs10990357	0.95[ASN][1000 genomes]
rs10990358	1.00[ASN][1000 genomes]
rs10990359	0.97[ASN][1000 genomes]
rs10990361	0.95[ASN][1000 genomes]
rs1418780	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16922210	0.95[ASN][1000 genomes]
rs16922216	0.95[ASN][1000 genomes]
rs2220706	0.81[ASN][1000 genomes]
rs2812591	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742862	0.97[ASN][1000 genomes]
rs56351068	0.81[ASN][1000 genomes]
rs7023672	0.97[ASN][1000 genomes]
rs7040321	0.93[ASN][1000 genomes]
rs843260	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs843262	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs843263	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs843264	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs843265	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs843269	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs859996	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047080	chr9:105432479-105658235	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv540185	chr9:105432479-105658235	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv893653	chr9:105542534-105603760	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1054263	chr9:105570212-105754741	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv893655	chr9:105583926-105620803	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv430086	chr9:105585487-105632182	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1054932	chr9:105585667-105646429	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1053435	chr9:105594399-105733795	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs843270	ABCA1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105602400-105603800	Enhancers	Fetal Intestine Large	intestine
2	chr9:105602400-105606800	Enhancers	Fetal Intestine Small	intestine
3	chr9:105602600-105605200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr9:105602600-105605400	Enhancers	Liver	Liver
5	chr9:105603200-105604200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:105603400-105603800	Enhancers	Fetal Kidney	kidney
7	chr9:105603400-105605200	Enhancers	HepG2	liver
8	chr9:105603600-105604400	Weak transcription	A549	lung
9	chr9:105603600-105604800	Active TSS	Duodenum Mucosa	Duodenum

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