Variant report

Variant	rs2298532
Chromosome Location	chr18:11506644-11506645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1031540	0.84[AMR][1000 genomes]
rs1031541	0.80[MEX][hapmap];0.85[AMR][1000 genomes]
rs1031542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1031543	0.86[AMR][1000 genomes]
rs1031544	0.85[AMR][1000 genomes]
rs1122103	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1455244	0.92[ASW][hapmap];0.91[CEU][hapmap];0.84[MKK][hapmap];0.84[YRI][hapmap]
rs1551458	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966888	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2219170	0.92[ASW][hapmap];0.91[CEU][hapmap];0.84[MKK][hapmap];0.84[YRI][hapmap]
rs2298531	0.80[AMR][1000 genomes]
rs2865814	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3819088	0.80[AMR][1000 genomes]
rs4312372	0.85[EUR][1000 genomes]
rs4496227	0.85[AMR][1000 genomes]
rs4644913	0.85[EUR][1000 genomes]
rs4796927	0.85[AMR][1000 genomes]
rs4796928	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs4797541	0.85[AMR][1000 genomes]
rs4797542	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs4797543	0.85[AMR][1000 genomes]
rs4797545	0.85[AMR][1000 genomes]
rs4797547	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797548	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494486	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs507790	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs535691	0.83[CEU][hapmap]
rs59801755	0.84[EUR][1000 genomes]
rs6505658	0.95[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs6505659	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6505660	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7226636	0.85[AMR][1000 genomes]
rs7226759	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7226808	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7226952	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7230248	0.85[AMR][1000 genomes]
rs7230268	0.80[EUR][1000 genomes]
rs7230843	0.85[AMR][1000 genomes]
rs7244205	0.85[AMR][1000 genomes]
rs7244660	0.85[AMR][1000 genomes]
rs732870	0.85[AMR][1000 genomes]
rs732871	0.85[AMR][1000 genomes]
rs732872	0.80[MEX][hapmap]
rs734575	0.85[AMR][1000 genomes]
rs745990	0.85[AMR][1000 genomes]
rs8086703	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8093677	0.85[AMR][1000 genomes]
rs8093875	0.80[MEX][hapmap];0.85[AMR][1000 genomes]
rs8097953	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8098169	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921804	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9303736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945383	0.84[MEX][hapmap]
rs9954648	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9957164	0.85[AMR][1000 genomes]
rs9961424	0.85[AMR][1000 genomes]
rs9963650	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2204	chr18:11499825-11544209	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv576483	chr18:11502864-11510556	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv576484	chr18:11502864-11510900	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11504800-11507000	Enhancers	Fetal Thymus	thymus
3	chr18:11504800-11507000	Enhancers	Thymus	Thymus
4	chr18:11504800-11507200	Enhancers	Dnd41	blood
5	chr18:11506400-11507400	Enhancers	Hela-S3	cervix
6	chr18:11506600-11506800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:11506600-11506800	Enhancers	Osteobl	bone
8	chr18:11506600-11507000	Enhancers	NH-A	brain

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