Variant report

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

rs_ID	r²[population]
rs10489623	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs12401558	0.85[ASN][1000 genomes]
rs12406202	0.85[ASN][1000 genomes]
rs12407519	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1329449	0.81[AMR][1000 genomes]
rs1885002	0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs1887977	0.85[ASN][1000 genomes]
rs2269114	0.80[ASN][1000 genomes]
rs2269115	0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs2269118	0.84[ASN][1000 genomes]
rs2269119	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2269121	0.85[ASN][1000 genomes]
rs2300954	0.84[ASN][1000 genomes]
rs2300955	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs55894323	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57210737	0.84[ASN][1000 genomes]
rs58983677	0.81[ASN][1000 genomes]
rs6681119	0.85[ASN][1000 genomes]
rs6694643	0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs6697228	0.82[CEU][hapmap];0.91[CHB][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs72670317	0.85[ASN][1000 genomes]
rs72670319	0.85[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1000266	chr1:57291371-57319480	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs857040	YIPF1	cis	parietal	SCAN
rs857040	C1orf177	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57303400-57310800	Weak transcription	HepG2	liver
2	chr1:57309200-57311600	Enhancers	Fetal Intestine Small	intestine
3	chr1:57309600-57311000	Enhancers	Brain Germinal Matrix	brain
4	chr1:57309800-57311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:57310000-57311000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:57310200-57310600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:57310200-57310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57310200-57310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:57310200-57311000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57310200-57311000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:57310200-57311200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:57310200-57311200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:57310400-57310800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:57310400-57310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:57310400-57311000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57310400-57311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:57310400-57311000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr1:57310400-57311400	Enhancers	Fetal Intestine Large	intestine

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