Variant report

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1013979	0.95[ASN][1000 genomes]
rs1191622	0.94[ASN][1000 genomes]
rs1191624	0.90[ASN][1000 genomes]
rs1191625	0.83[ASN][1000 genomes]
rs1211518	0.94[ASN][1000 genomes]
rs1212278	0.90[ASN][1000 genomes]
rs12186048	0.90[ASN][1000 genomes]
rs12629841	0.90[ASN][1000 genomes]
rs13083647	0.92[ASN][1000 genomes]
rs1317104	0.92[ASN][1000 genomes]
rs1358615	0.94[ASN][1000 genomes]
rs1358616	0.87[ASN][1000 genomes]
rs1406568	0.94[ASN][1000 genomes]
rs1518885	0.96[ASN][1000 genomes]
rs1518886	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1518887	0.94[ASN][1000 genomes]
rs1529075	0.95[ASN][1000 genomes]
rs17031629	0.94[ASN][1000 genomes]
rs17031637	0.94[ASN][1000 genomes]
rs1881685	0.92[ASN][1000 genomes]
rs1919621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919622	0.92[ASN][1000 genomes]
rs1949470	0.94[ASN][1000 genomes]
rs2077806	0.95[ASN][1000 genomes]
rs2167040	0.85[ASN][1000 genomes]
rs2218729	0.85[ASN][1000 genomes]
rs2951002	0.93[ASN][1000 genomes]
rs34843235	0.93[ASN][1000 genomes]
rs34896219	0.94[ASN][1000 genomes]
rs35488362	0.93[ASN][1000 genomes]
rs35703530	0.94[ASN][1000 genomes]
rs35905703	0.85[ASN][1000 genomes]
rs35929503	0.94[ASN][1000 genomes]
rs4533591	0.95[ASN][1000 genomes]
rs67251788	0.94[ASN][1000 genomes]
rs6804250	0.84[ASN][1000 genomes]
rs9816663	0.84[ASN][1000 genomes]
rs9824579	0.93[ASN][1000 genomes]
rs9842247	0.92[ASN][1000 genomes]
rs9858557	0.96[ASN][1000 genomes]

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	nsv1001599	chr3:34149575-34437701	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536533	chr3:34149575-34437701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv916961	chr3:34203879-34506554	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12487411	TSPYL4	trans	cerebellum	SCAN
rs12487411	EPM2AIP1	cis	cerebellum	SCAN
rs12487411	CMTM8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34420000-34424400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:34420200-34423000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:34420200-34423600	Weak transcription	Fetal Intestine Small	intestine
4	chr3:34420400-34423000	Weak transcription	Fetal Intestine Large	intestine
5	chr3:34421600-34422200	Enhancers	Fetal Heart	heart
6	chr3:34421800-34423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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