Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160379485..160381403-chr3:160384390..160388251,3	K562	blood:
2	chr3:160281855..160284410-chr3:160385927..160387704,2	K562	blood:

Variant related genes	Relation type
ENSG00000186432	Chromatin interaction
ENSG00000229320	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10460866	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11711627	0.80[ASN][1000 genomes]
rs11712392	0.82[ASN][1000 genomes]
rs11713230	0.82[ASN][1000 genomes]
rs11720693	0.96[EUR][1000 genomes]
rs13062928	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065269	0.82[ASN][1000 genomes]
rs13072556	0.92[EUR][1000 genomes]
rs13074231	0.82[ASN][1000 genomes]
rs13075424	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882125	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1920650	0.80[ASN][1000 genomes]
rs2141668	0.80[ASN][1000 genomes]
rs2367209	0.86[EUR][1000 genomes]
rs34058107	0.95[EUR][1000 genomes]
rs34444753	0.91[EUR][1000 genomes]
rs35008770	0.80[ASN][1000 genomes]
rs35498840	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679903	0.80[ASN][1000 genomes]
rs4679904	0.82[ASN][1000 genomes]
rs57718211	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339919	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6792943	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71314011	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7633839	0.96[EUR][1000 genomes]
rs7634255	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13085507	SMC4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160384000-160387800	Weak transcription	Small Intestine	intestine
2	chr3:160384000-160389200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:160385200-160395000	Weak transcription	Colonic Mucosa	Colon
4	chr3:160385400-160391200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:160385600-160388800	Weak transcription	NHLF	lung
6	chr3:160385600-160389000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:160385600-160389200	Weak transcription	Pancreas	Pancrea
8	chr3:160386200-160387200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:160386200-160390000	Weak transcription	A549	lung
10	chr3:160386200-160393400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:160386400-160387400	Weak transcription	Stomach Mucosa	stomach
12	chr3:160386400-160388000	Weak transcription	GM12878-XiMat	blood
13	chr3:160386400-160388800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:160386400-160389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:160386400-160391400	Weak transcription	Rectal Mucosa Donor 31	rectum

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