Variant report

Variant	rs3733236
Chromosome Location	chr4:76923998-76923999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76918050..76921353-chr4:76922033..76925702,4	K562	blood:
2	chr4:76918050..76921353-chr4:76922033..76925702,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10019066	0.84[JPT][hapmap]
rs10222911	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1050176	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10856871	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097192	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12499668	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs12500200	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12504915	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs12509988	0.82[CEU][hapmap]
rs12509996	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs12511352	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs12511357	0.85[CHB][hapmap]
rs12511359	0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12511861	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106039	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs1554015	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17001275	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17001284	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1910907	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2869461	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28703679	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621456	0.82[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4859412	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55964684	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56039229	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56105413	0.88[EUR][1000 genomes]
rs56316945	0.88[ASN][1000 genomes]
rs58909712	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59559903	0.93[AMR][1000 genomes]
rs61279846	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6532084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532167	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs6532168	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs6532169	0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6532170	0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs66477189	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67210456	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67297326	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67413521	0.88[ASN][1000 genomes]
rs67687266	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6828744	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6834291	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847716	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857358	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72651379	0.80[EUR][1000 genomes]
rs72651387	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7349626	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666094	0.82[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap]
rs7670156	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7671125	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7679689	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs7684879	0.82[ASN][1000 genomes]
rs7685390	0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs7692605	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7693606	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs7696286	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9998233	0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]

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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3733236	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs3733236	NAAA	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76912400-76932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:76920400-76924200	Enhancers	Fetal Intestine Small	intestine
3	chr4:76920600-76924200	Enhancers	Fetal Intestine Large	intestine
4	chr4:76922000-76924200	Weak transcription	Pancreas	Pancrea
5	chr4:76922800-76924600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:76923000-76924400	Enhancers	K562	blood
7	chr4:76923000-76925400	Enhancers	Dnd41	blood
8	chr4:76923200-76924000	Enhancers	Hela-S3	cervix
9	chr4:76923200-76924000	Enhancers	HUVEC	blood vessel
10	chr4:76923400-76924200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:76923400-76924600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:76923800-76924000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:76923800-76925200	Enhancers	Left Ventricle	heart

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