Variant report

Variant	rs28666758
Chromosome Location	chr2:48901051-48901052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10198501	0.82[EUR][1000 genomes]
rs10208754	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11125178	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11125179	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11676166	0.86[ASN][1000 genomes]
rs11677854	0.86[ASN][1000 genomes]
rs11678398	0.84[ASN][1000 genomes]
rs11691408	0.86[ASN][1000 genomes]
rs11892581	0.81[ASN][1000 genomes]
rs11899239	0.93[ASN][1000 genomes]
rs12473064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12713012	0.98[ASN][1000 genomes]
rs12995714	0.81[ASN][1000 genomes]
rs13014919	0.84[ASN][1000 genomes]
rs13022553	0.98[ASN][1000 genomes]
rs13024367	0.95[ASN][1000 genomes]
rs1404051	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1464727	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1464729	0.98[ASN][1000 genomes]
rs1524148	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1524155	0.90[AMR][1000 genomes]
rs17326209	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17326251	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1916838	0.93[ASN][1000 genomes]
rs1996968	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2056581	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2103113	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2293275	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2349101	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34003293	0.81[ASN][1000 genomes]
rs34205206	0.81[ASN][1000 genomes]
rs34378457	0.86[ASN][1000 genomes]
rs34790224	0.81[ASN][1000 genomes]
rs35125065	0.98[ASN][1000 genomes]
rs35501278	0.93[ASN][1000 genomes]
rs35540486	0.93[ASN][1000 genomes]
rs35737133	0.86[ASN][1000 genomes]
rs35866214	0.98[ASN][1000 genomes]
rs3792241	0.84[EUR][1000 genomes]
rs3792246	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811516	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4429518	0.81[ASN][1000 genomes]
rs62137532	0.81[ASN][1000 genomes]
rs6545051	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6545054	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6706586	0.84[ASN][1000 genomes]
rs6720650	0.86[ASN][1000 genomes]
rs6723170	0.81[EUR][1000 genomes]
rs6730379	0.98[ASN][1000 genomes]
rs6734199	0.98[ASN][1000 genomes]
rs6738387	0.90[AMR][1000 genomes]
rs6741840	0.98[ASN][1000 genomes]
rs6746623	0.98[ASN][1000 genomes]
rs6747475	0.98[ASN][1000 genomes]
rs6747688	0.84[ASN][1000 genomes]
rs6760849	0.86[ASN][1000 genomes]
rs7559006	0.93[ASN][1000 genomes]
rs7562038	0.93[ASN][1000 genomes]
rs7572902	0.93[ASN][1000 genomes]
rs7583310	0.81[ASN][1000 genomes]
rs7587112	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv874004	chr2:48838955-48904550	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 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	chr2:48898400-48901200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:48898800-48920200	Weak transcription	Ovary	ovary
6	chr2:48899400-48906800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:48900400-48901400	Enhancers	Placenta	Placenta

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