Variant report

Variant	rs3768215
Chromosome Location	chr1:57362787-57362788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57356186..57359118-chr1:57361221..57364582,4	K562	blood:
2	chr1:57361785..57363562-chr1:57365977..57368137,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10489623	1.00[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap]
rs11206932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206933	0.92[GIH][hapmap]
rs12401558	0.81[ASN][1000 genomes]
rs12406202	0.81[ASN][1000 genomes]
rs1329449	1.00[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap]
rs1411009	0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1885002	0.93[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs1887977	0.81[ASN][1000 genomes]
rs2145404	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269114	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269115	0.93[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs2269118	0.80[ASN][1000 genomes]
rs2269119	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2269121	0.81[ASN][1000 genomes]
rs2300954	0.80[ASN][1000 genomes]
rs2300955	0.85[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.80[ASN][1000 genomes]
rs35562962	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57210737	0.80[ASN][1000 genomes]
rs58983677	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6681119	0.81[ASN][1000 genomes]
rs6683663	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs6694643	0.93[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs6697228	0.93[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs72670317	0.81[ASN][1000 genomes]
rs72670319	0.81[ASN][1000 genomes]
rs72670327	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3768215	C1orf177	cis	cerebellum	SCAN
rs3768215	YIPF1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57360400-57364400	Enhancers	Liver	Liver
2	chr1:57361400-57364200	Enhancers	Pancreas	Pancrea
3	chr1:57362000-57363800	Enhancers	Fetal Intestine Large	intestine
4	chr1:57362000-57364600	Enhancers	Gastric	stomach
5	chr1:57362200-57365800	Enhancers	HepG2	liver
6	chr1:57362400-57362800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr1:57362400-57362800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:57362400-57363800	Weak transcription	Stomach Mucosa	stomach
9	chr1:57362400-57364000	Enhancers	Lung	lung
10	chr1:57362400-57364200	Enhancers	Fetal Intestine Small	intestine
11	chr1:57362400-57369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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