Variant report

Variant	rs2101981
Chromosome Location	chr1:216710798-216710799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10495026	0.81[CHB][hapmap]
rs10863248	0.81[CHB][hapmap]
rs10863249	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs11117610	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11117611	0.82[ASN][1000 genomes]
rs11572810	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11572811	0.91[JPT][hapmap]
rs12089635	0.81[CHB][hapmap]
rs12117030	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs12118392	0.81[CHB][hapmap]
rs12118884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12125859	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12128944	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12144650	0.81[CHB][hapmap]
rs12144754	1.00[ASN][1000 genomes]
rs12750231	0.83[ASN][1000 genomes]
rs12757147	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs1498285	0.81[CHB][hapmap]
rs1498286	0.81[CHB][hapmap]
rs17610844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1846224	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs1846226	0.81[CHB][hapmap]
rs2032036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2088502	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420152	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6604629	0.81[CHB][hapmap]
rs6604630	0.81[CHB][hapmap]
rs6604631	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs6604632	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs6678856	0.81[CHB][hapmap]
rs6679193	0.81[CHB][hapmap]
rs6679623	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs68013940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705000-216714400	Weak transcription	Gastric	stomach
2	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
3	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:216705600-216711800	Weak transcription	Right Atrium	heart
5	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
6	chr1:216709600-216714600	Weak transcription	Fetal Heart	heart

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