Variant report

Variant	rs6750984
Chromosome Location	chr2:67326312-67326313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10165553	0.80[EUR][1000 genomes]
rs10181214	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10185431	0.81[EUR][1000 genomes]
rs10196805	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10199998	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10200196	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10208188	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11890661	0.80[EUR][1000 genomes]
rs13397289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13399908	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405122	0.91[ASN][1000 genomes]
rs17032976	0.89[ASN][1000 genomes]
rs17032980	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2222849	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770659	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55719437	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57138372	0.81[EUR][1000 genomes]
rs6546279	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6546280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6546281	0.87[AFR][1000 genomes]
rs6712923	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6719951	0.87[AFR][1000 genomes]
rs6748553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs752937	0.83[CEU][hapmap]
rs7569503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7575826	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588922	0.80[EUR][1000 genomes]
rs7589620	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7600954	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602130	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2756926	chr2:67266707-67337017	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759058	chr2:67266707-67465662	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2757805	chr2:67287279-67465662	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428397	chr2:67287279-67465662	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3459599	chr2:67319023-67334625	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3459600	chr2:67319023-67334625	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv829449	chr2:67320439-67334450	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv9991	chr2:67323572-67329271	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv3457865	chr2:67324404-67329283	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv3457863	chr2:67324437-67329274	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv3457867	chr2:67324472-67329225	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv3457866	chr2:67324553-67329173	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv3457868	chr2:67324567-67329172	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv829450	chr2:67324681-67328747	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67324200-67326400	Weak transcription	Fetal Kidney	kidney
2	chr2:67324200-67326600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:67326200-67327200	Enhancers	Colon Smooth Muscle	Colon

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