Variant report

Variant	rs2127689
Chromosome Location	chr8:114040419-114040420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10092868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10094069	1.00[JPT][hapmap]
rs10094486	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10111703	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1014321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1017829	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1021875	1.00[JPT][hapmap]
rs1021876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1021877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1021878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1034511	1.00[JPT][hapmap]
rs1038192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955642	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1156075	1.00[JPT][hapmap]
rs1156076	1.00[JPT][hapmap]
rs1159225	1.00[JPT][hapmap]
rs11985196	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990304	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12541577	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12550692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12675949	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1351387	1.00[JPT][hapmap]
rs1351388	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1351389	1.00[CEU][hapmap]
rs1351392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354445	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1354446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1383294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1383296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1383298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383299	1.00[JPT][hapmap]
rs1383300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1394268	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1394269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1394270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1394271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1472723	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1472724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1480443	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1480446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1480448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1480455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1480462	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1480463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1504337	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504338	1.00[JPT][hapmap]
rs1504339	1.00[JPT][hapmap]
rs1504340	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1504343	1.00[JPT][hapmap]
rs1504346	1.00[JPT][hapmap]
rs1504347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1522057	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1522064	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1522065	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1532798	1.00[JPT][hapmap]
rs1532799	1.00[JPT][hapmap]
rs1566835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1600574	1.00[JPT][hapmap]
rs17602288	1.00[JPT][hapmap]
rs17602393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17602529	1.00[JPT][hapmap]
rs17605667	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17607120	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17659540	1.00[JPT][hapmap]
rs1817453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1827626	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1857717	1.00[JPT][hapmap]
rs1857718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1948845	1.00[JPT][hapmap]
rs1969112	1.00[JPT][hapmap]
rs1969113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2030506	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2045539	1.00[JPT][hapmap]
rs2125550	1.00[JPT][hapmap]
rs2134838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2134839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2134840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2134842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2356050	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs2356203	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs2883836	1.00[JPT][hapmap]
rs2883875	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3853260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3853261	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3853262	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3912243	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4242551	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4437684	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4509361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4565484	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs4876299	1.00[JPT][hapmap]
rs4876300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4876502	1.00[JPT][hapmap]
rs4876507	1.00[JPT][hapmap]
rs58021089	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469452	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6982602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6993468	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6995484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6997105	1.00[JPT][hapmap]
rs6999773	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7004426	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7013894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7014643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7015519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7015794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7015938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7812581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7812971	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7817385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824290	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824563	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828518	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7829709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7829954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7833634	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7834106	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7834141	0.89[CEU][hapmap]
rs7835368	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836578	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7840572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7840573	1.00[JPT][hapmap]
rs7840935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs899831	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9283946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297481	1.00[JPT][hapmap]
rs9297482	1.00[JPT][hapmap]
rs9297486	1.00[JPT][hapmap]
rs9297488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9642818	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs964763	1.00[JPT][hapmap]
rs964764	1.00[JPT][hapmap]
rs971124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs972149	1.00[JPT][hapmap]
rs974760	1.00[JPT][hapmap]
rs979895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs979896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs989774	1.00[JPT][hapmap]
rs990220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs990745	1.00[JPT][hapmap]
rs996252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv891327	chr8:113828980-114109342	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2756439	chr8:113920441-114060648	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2753160	chr8:113920441-114190390	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534557	chr8:113929740-114131155	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2756532	chr8:113931884-114120265	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv891331	chr8:113951265-114108147	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2752734	chr8:113972011-114113977	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv511403	chr8:114029421-114056593	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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