Variant report

Variant	rs7247553
Chromosome Location	chr19:21200695-21200696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10405218	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10405406	0.87[EUR][1000 genomes]
rs10406661	0.96[EUR][1000 genomes]
rs10409844	0.81[ASN][1000 genomes]
rs10409877	0.96[EUR][1000 genomes]
rs10411038	0.92[EUR][1000 genomes]
rs10412267	0.96[EUR][1000 genomes]
rs10412688	0.91[ASN][1000 genomes]
rs10413692	0.91[ASN][1000 genomes]
rs10413983	0.94[EUR][1000 genomes]
rs10417165	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10418706	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10422193	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10423541	0.96[EUR][1000 genomes]
rs10424283	0.96[EUR][1000 genomes]
rs10425969	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11085424	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11666640	0.81[ASN][1000 genomes]
rs11668795	0.88[EUR][1000 genomes]
rs11671894	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11672142	0.81[ASN][1000 genomes]
rs12104220	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12104387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12608931	0.91[ASN][1000 genomes]
rs12609005	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12609167	0.86[ASN][1000 genomes]
rs12609510	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12609831	0.92[ASN][1000 genomes]
rs12611115	0.91[ASN][1000 genomes]
rs12974016	0.96[EUR][1000 genomes]
rs12975789	0.92[ASN][1000 genomes]
rs12976796	0.97[ASN][1000 genomes]
rs2081050	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081052	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2081054	0.98[ASN][1000 genomes]
rs2081055	0.91[ASN][1000 genomes]
rs2081056	0.91[ASN][1000 genomes]
rs2081057	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2082003	0.94[EUR][1000 genomes]
rs2098681	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099648	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112803	0.91[ASN][1000 genomes]
rs2115493	0.96[EUR][1000 genomes]
rs2164988	0.82[ASN][1000 genomes]
rs2164989	0.81[ASN][1000 genomes]
rs2358789	0.81[ASN][1000 genomes]
rs2358792	0.94[ASN][1000 genomes]
rs2358795	0.92[ASN][1000 genomes]
rs2358803	0.85[EUR][1000 genomes]
rs2884548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35137761	0.96[EUR][1000 genomes]
rs4255903	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4292035	0.95[ASN][1000 genomes]
rs4365405	0.91[ASN][1000 genomes]
rs4488591	0.96[EUR][1000 genomes]
rs4808273	0.87[ASN][1000 genomes]
rs4808275	0.96[EUR][1000 genomes]
rs4809122	0.96[EUR][1000 genomes]
rs62122564	0.91[ASN][1000 genomes]
rs62122565	0.91[ASN][1000 genomes]
rs6511175	0.91[ASN][1000 genomes]
rs6511179	0.93[ASN][1000 genomes]
rs6511181	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511183	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511184	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511190	0.85[EUR][1000 genomes]
rs6511192	0.96[EUR][1000 genomes]
rs6511194	0.96[EUR][1000 genomes]
rs6511196	0.96[EUR][1000 genomes]
rs7246723	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7247413	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7248087	0.94[ASN][1000 genomes]
rs7248410	0.96[EUR][1000 genomes]
rs7249283	0.81[ASN][1000 genomes]
rs7250169	0.96[EUR][1000 genomes]
rs7252277	0.92[ASN][1000 genomes]
rs7253530	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7253950	0.94[EUR][1000 genomes]
rs7254047	0.96[EUR][1000 genomes]
rs7254053	0.90[EUR][1000 genomes]
rs7254722	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7254768	1.00[ASN][1000 genomes]
rs7254982	0.92[EUR][1000 genomes]
rs7258477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7258831	0.84[ASN][1000 genomes]
rs7259653	0.98[ASN][1000 genomes]
rs7260268	0.96[EUR][1000 genomes]
rs741674	0.96[EUR][1000 genomes]
rs741676	0.96[EUR][1000 genomes]
rs8100599	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8101222	0.96[EUR][1000 genomes]
rs8102966	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103696	0.92[ASN][1000 genomes]
rs8103825	0.96[EUR][1000 genomes]
rs8106923	0.96[EUR][1000 genomes]
rs8107982	0.81[ASN][1000 genomes]
rs8109577	0.84[ASN][1000 genomes]
rs8111827	0.96[EUR][1000 genomes]
rs8112054	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8112216	0.81[ASN][1000 genomes]
rs8112500	0.96[EUR][1000 genomes]
rs8182465	0.96[EUR][1000 genomes]
rs9304980	0.81[ASN][1000 genomes]
rs9304982	0.96[EUR][1000 genomes]
rs9941463	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21192200-21203000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr19:21192400-21203000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:21192400-21203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:21192600-21203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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