Variant report

Variant	rs11691408
Chromosome Location	chr2:48910933-48910934
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	chr2:48904136..48905986-chr2:48910089..48911674,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10198501	0.90[CHD][hapmap];0.87[GIH][hapmap];0.82[ASN][1000 genomes]
rs10208754	0.82[CHB][hapmap];0.90[CHD][hapmap];0.94[MEX][hapmap]
rs10209208	0.82[ASN][1000 genomes]
rs10495955	0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11125178	0.85[AMR][1000 genomes]
rs11125179	1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11679449	0.84[ASN][1000 genomes]
rs11683643	0.84[ASN][1000 genomes]
rs11685904	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs11892581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899239	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11901588	0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap]
rs12329215	0.82[ASN][1000 genomes]
rs12473064	0.82[ASN][1000 genomes]
rs12713012	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[ASN][1000 genomes]
rs12987384	0.84[ASN][1000 genomes]
rs12987494	0.84[ASN][1000 genomes]
rs12988176	0.83[MKK][hapmap]
rs12992138	0.84[ASN][1000 genomes]
rs12992918	0.84[ASN][1000 genomes]
rs12993815	0.84[ASN][1000 genomes]
rs12997569	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs13022553	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13022734	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13024367	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1404051	1.00[ASN][1000 genomes]
rs1404054	0.84[ASN][1000 genomes]
rs1404057	0.86[MKK][hapmap]
rs1464727	0.90[MEX][hapmap]
rs1464729	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[ASN][1000 genomes]
rs1524148	0.88[ASN][1000 genomes]
rs1524155	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1589749	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs17326209	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs17326251	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs17398030	0.84[ASN][1000 genomes]
rs1916838	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.83[ASN][1000 genomes]
rs1996968	0.81[ASN][1000 genomes]
rs1996969	0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs2103113	0.82[ASN][1000 genomes]
rs2293269	0.84[ASN][1000 genomes]
rs2293275	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.88[ASN][1000 genomes]
rs2349099	1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[ASN][1000 genomes]
rs2349101	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs28666758	0.86[ASN][1000 genomes]
rs34002966	0.84[ASN][1000 genomes]
rs34124947	0.84[ASN][1000 genomes]
rs34378457	1.00[ASN][1000 genomes]
rs34393991	0.84[ASN][1000 genomes]
rs34757099	0.90[ASN][1000 genomes]
rs34790224	0.95[ASN][1000 genomes]
rs35125065	0.88[ASN][1000 genomes]
rs35362799	0.84[ASN][1000 genomes]
rs35422158	0.84[ASN][1000 genomes]
rs35461667	0.84[ASN][1000 genomes]
rs35501278	0.83[ASN][1000 genomes]
rs35540486	0.84[ASN][1000 genomes]
rs35866214	0.88[ASN][1000 genomes]
rs3792240	0.84[ASN][1000 genomes]
rs3792241	0.85[GIH][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs3792242	0.84[ASN][1000 genomes]
rs3792243	1.00[CHD][hapmap];0.81[GIH][hapmap];0.84[ASN][1000 genomes]
rs3792246	1.00[CHB][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs41281477	0.84[ASN][1000 genomes]
rs62137487	0.84[ASN][1000 genomes]
rs62137532	0.95[ASN][1000 genomes]
rs6545053	0.84[YRI][hapmap]
rs6545054	0.82[ASN][1000 genomes]
rs6710333	1.00[CEU][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6723170	0.82[ASN][1000 genomes]
rs6730379	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6734199	0.88[ASN][1000 genomes]
rs6738387	0.85[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6739692	0.96[CEU][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741840	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6746530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6746623	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6747475	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7559006	0.84[ASN][1000 genomes]
rs7562038	0.84[ASN][1000 genomes]
rs7572902	0.84[ASN][1000 genomes]
rs7583310	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7587112	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7601997	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11691408	EPAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:48869800-48915400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:48874200-48919600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:48898800-48920200	Weak transcription	Ovary	ovary
5	chr2:48908000-48920000	Weak transcription	Stomach Smooth Muscle	stomach

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