Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2243406	0.84[ASN][1000 genomes]
rs2243482	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2246059	0.82[ASN][1000 genomes]
rs2246060	0.84[ASN][1000 genomes]
rs2246084	0.90[ASN][1000 genomes]
rs2246312	0.90[ASN][1000 genomes]
rs2246316	0.90[ASN][1000 genomes]
rs2246327	0.89[ASN][1000 genomes]
rs2249355	0.91[ASN][1000 genomes]
rs2249379	0.91[ASN][1000 genomes]
rs2249479	0.91[ASN][1000 genomes]
rs2249487	0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2249870	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2249981	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2612233	0.94[ASN][1000 genomes]
rs2612234	0.94[ASN][1000 genomes]
rs2612235	0.94[ASN][1000 genomes]
rs2612236	0.94[ASN][1000 genomes]
rs2612238	0.95[ASN][1000 genomes]
rs2612239	0.95[ASN][1000 genomes]
rs2791209	0.94[ASN][1000 genomes]
rs2791210	0.94[ASN][1000 genomes]
rs2815431	0.94[ASN][1000 genomes]
rs2815434	0.96[ASN][1000 genomes]
rs2901175	0.83[EUR][1000 genomes]
rs35345355	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3753694	0.91[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	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1840142	chr1:69692232-69728843	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014209	chr1:69710467-69910241	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4146494	DEPDC1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69724800-69729800	Weak transcription	Pancreas	Pancrea
2	chr1:69727600-69730000	Weak transcription	Fetal Brain Female	brain
3	chr1:69728200-69731200	Enhancers	Brain Germinal Matrix	brain
4	chr1:69728400-69729400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:69728400-69729600	Enhancers	Fetal Kidney	kidney

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