Variant report

Variant	rs2043917
Chromosome Location	chr2:210027957-210027958
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10164549	0.86[AFR][1000 genomes]
rs10173917	0.87[ASN][1000 genomes]
rs10176264	0.87[ASN][1000 genomes]
rs10179445	0.87[ASN][1000 genomes]
rs10182757	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10186025	0.87[ASN][1000 genomes]
rs10202821	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1030960	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10497918	0.86[ASN][1000 genomes]
rs10497919	0.87[ASN][1000 genomes]
rs10497920	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11900049	0.82[ASN][1000 genomes]
rs12694156	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12694157	0.89[ASN][1000 genomes]
rs12694159	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12694160	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12694162	0.86[ASN][1000 genomes]
rs12694163	0.84[ASN][1000 genomes]
rs12694164	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12694166	0.83[ASN][1000 genomes]
rs13000497	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs13015842	0.86[ASN][1000 genomes]
rs13026809	0.84[ASN][1000 genomes]
rs13388501	0.82[ASN][1000 genomes]
rs13388592	0.83[ASN][1000 genomes]
rs13390342	0.82[AFR][1000 genomes]
rs13391201	0.83[ASN][1000 genomes]
rs13391946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398502	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13405413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418760	0.89[ASN][1000 genomes]
rs13423668	0.87[ASN][1000 genomes]
rs13425205	0.86[AFR][1000 genomes]
rs13425311	0.82[AFR][1000 genomes]
rs1371437	0.86[AFR][1000 genomes]
rs1439741	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1439743	0.89[ASN][1000 genomes]
rs1530132	0.89[ASN][1000 genomes]
rs1530133	0.89[ASN][1000 genomes]
rs1583758	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1595737	0.87[ASN][1000 genomes]
rs1595738	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16842610	0.82[ASN][1000 genomes]
rs1837431	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1898943	0.89[ASN][1000 genomes]
rs2005352	0.85[AFR][1000 genomes]
rs2043915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119038	0.89[ASN][1000 genomes]
rs2119039	0.89[ASN][1000 genomes]
rs2119041	0.89[ASN][1000 genomes]
rs28593633	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34003755	0.87[ASN][1000 genomes]
rs34282948	0.87[ASN][1000 genomes]
rs34521318	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34590389	0.87[ASN][1000 genomes]
rs34867362	0.87[ASN][1000 genomes]
rs3890028	0.86[AFR][1000 genomes]
rs4332863	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4602158	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6435517	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs66489564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707382	0.87[ASN][1000 genomes]
rs6707503	0.86[ASN][1000 genomes]
rs6717755	0.87[ASN][1000 genomes]
rs6718580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727838	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6730973	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6733492	0.87[ASN][1000 genomes]
rs6740295	0.87[ASN][1000 genomes]
rs6745027	0.81[ASN][1000 genomes]
rs6750576	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6756445	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6757269	0.81[ASN][1000 genomes]
rs67945528	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7560902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563326	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7563731	0.87[ASN][1000 genomes]
rs7571546	0.87[ASN][1000 genomes]
rs7581212	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7586718	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7587994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593117	0.87[ASN][1000 genomes]
rs7593829	0.87[ASN][1000 genomes]
rs7598051	0.87[ASN][1000 genomes]
rs7602855	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs876853	0.85[AFR][1000 genomes]
rs991724	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv875762	chr2:209992353-210036655	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875763	chr2:210000582-210036655	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210024400-210028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:210026000-210029800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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