Variant report

Variant	rs998819
Chromosome Location	chr18:44564181-44564182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10070	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10853544	0.83[EUR][1000 genomes]
rs10853545	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10853547	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11082562	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11660085	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12386118	0.84[ASN][1000 genomes]
rs1465722	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1539878	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1789152	0.83[EUR][1000 genomes]
rs1893427	0.83[EUR][1000 genomes]
rs1970668	0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2010834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032215	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2156050	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs2187090	0.83[EUR][1000 genomes]
rs2187092	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2571024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571028	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2576050	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2576051	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892820	0.82[EUR][1000 genomes]
rs4258717	0.83[EUR][1000 genomes]
rs477826	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs4890341	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs4890342	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4890343	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4890698	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs4890699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4890700	0.84[ASN][1000 genomes]
rs4890703	0.86[EUR][1000 genomes]
rs4890707	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes]
rs501062	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs501882	0.88[JPT][hapmap]
rs504668	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs530205	0.88[JPT][hapmap]
rs553456	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs578451	0.88[JPT][hapmap]
rs590923	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs593340	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs605487	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs607780	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[EUR][1000 genomes]
rs616900	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs626217	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs641366	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs642897	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs644731	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs646128	0.88[JPT][hapmap]
rs649076	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs6507709	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6507714	0.86[EUR][1000 genomes]
rs658756	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs680018	0.88[JPT][hapmap]
rs695001	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs7227700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7234570	0.83[EUR][1000 genomes]
rs7240239	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs7244013	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7244778	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7245049	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8086286	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs8094654	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs8095373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs892586	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9304336	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs9304337	0.80[EUR][1000 genomes]
rs9304338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9304340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9945443	0.81[EUR][1000 genomes]
rs9947131	0.81[ASN][1000 genomes]
rs9954336	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs9959877	0.81[ASN][1000 genomes]
rs9962523	0.81[EUR][1000 genomes]
rs9966646	0.81[ASN][1000 genomes]

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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1805582	chr18:44542384-44577288	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv2282	chr18:44547638-44590333	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv917076	chr18:44558149-44568902	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44564000-44564600	Enhancers	GM12878-XiMat	blood

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