Variant report

Variant	rs12104387
Chromosome Location	chr19:21190673-21190674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10401931	0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs10405218	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10405406	0.87[EUR][1000 genomes]
rs10406661	0.89[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10408496	0.81[JPT][hapmap]
rs10409844	0.82[ASN][1000 genomes]
rs10409877	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10410901	0.91[JPT][hapmap]
rs10411038	0.92[EUR][1000 genomes]
rs10412267	0.88[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10412509	0.85[CHD][hapmap];0.94[JPT][hapmap]
rs10412688	0.92[ASN][1000 genomes]
rs10413692	0.92[ASN][1000 genomes]
rs10413983	0.94[EUR][1000 genomes]
rs10417165	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10418706	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421819	0.81[ASN][1000 genomes]
rs10422193	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10423541	1.00[CEU][hapmap];1.00[JPT][hapmap];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];0.82[ASN][1000 genomes]
rs11085424	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085431	0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs11666640	0.82[ASN][1000 genomes]
rs11668795	0.88[EUR][1000 genomes]
rs11671894	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11672142	0.82[ASN][1000 genomes]
rs11672727	1.00[JPT][hapmap]
rs11672747	1.00[JPT][hapmap]
rs12104220	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12608931	0.93[ASN][1000 genomes]
rs12609005	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12609167	0.96[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12609510	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12609831	0.94[ASN][1000 genomes]
rs12611115	0.92[ASN][1000 genomes]
rs12974016	0.96[EUR][1000 genomes]
rs12975789	0.94[ASN][1000 genomes]
rs12976796	0.98[ASN][1000 genomes]
rs12981855	0.81[ASN][1000 genomes]
rs1470021	1.00[JPT][hapmap]
rs1609441	1.00[JPT][hapmap]
rs1968523	1.00[JPT][hapmap]
rs2081050	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081052	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2081054	1.00[ASN][1000 genomes]
rs2081055	0.93[ASN][1000 genomes]
rs2081056	0.93[ASN][1000 genomes]
rs2081057	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082003	0.94[EUR][1000 genomes]
rs2098681	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2099648	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2112803	0.93[ASN][1000 genomes]
rs2115493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs2115494	1.00[JPT][hapmap]
rs2115495	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2115496	0.94[JPT][hapmap]
rs2164988	0.83[ASN][1000 genomes]
rs2164989	0.82[ASN][1000 genomes]
rs2195453	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2195454	1.00[JPT][hapmap]
rs2358792	0.95[ASN][1000 genomes]
rs2358795	0.94[ASN][1000 genomes]
rs2358803	0.85[EUR][1000 genomes]
rs2884548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884554	1.00[JPT][hapmap]
rs35137761	0.96[EUR][1000 genomes]
rs4255903	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4292035	0.97[ASN][1000 genomes]
rs4365405	0.92[ASN][1000 genomes]
rs4488591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs4808273	0.89[ASN][1000 genomes]
rs4808275	0.96[EUR][1000 genomes]
rs4809122	1.00[CEU][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs62122564	0.93[ASN][1000 genomes]
rs62122565	0.93[ASN][1000 genomes]
rs6511175	0.90[ASN][1000 genomes]
rs6511179	0.91[ASN][1000 genomes]
rs6511181	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511183	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511184	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511188	0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs6511190	0.85[EUR][1000 genomes]
rs6511191	1.00[JPT][hapmap]
rs6511192	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs6511194	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes]
rs6511195	1.00[JPT][hapmap]
rs6511196	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs7246723	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7247413	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7247553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248087	0.95[ASN][1000 genomes]
rs7248410	0.96[EUR][1000 genomes]
rs7249283	0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[ASN][1000 genomes]
rs7249736	1.00[JPT][hapmap]
rs7250169	0.96[EUR][1000 genomes]
rs7252277	0.94[ASN][1000 genomes]
rs7253530	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253950	0.94[EUR][1000 genomes]
rs7254047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs7254053	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7254722	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254768	0.98[ASN][1000 genomes]
rs7254982	0.92[EUR][1000 genomes]
rs7258477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258831	0.85[ASN][1000 genomes]
rs7259653	1.00[ASN][1000 genomes]
rs7260268	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7260600	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
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];1.00[ASN][1000 genomes]
rs8103696	0.94[ASN][1000 genomes]
rs8103825	0.96[EUR][1000 genomes]
rs8106801	0.96[CHD][hapmap];1.00[JPT][hapmap]
rs8106923	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs8107638	1.00[JPT][hapmap]
rs8107982	0.82[ASN][1000 genomes]
rs8109577	0.85[ASN][1000 genomes]
rs8111827	1.00[CEU][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs8112054	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8112216	0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8112500	0.96[EUR][1000 genomes]
rs8113541	1.00[JPT][hapmap]
rs8182465	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs9304980	0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[ASN][1000 genomes]
rs9304981	0.93[JPT][hapmap]
rs9304982	1.00[CEU][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs9941463	0.94[ASN][1000 genomes]
rs9967619	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21183400-21193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:21183400-21196000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:21183800-21190800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:21183800-21191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:21183800-21194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:21184000-21191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:21184000-21198000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:21184400-21196800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:21188600-21192200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr19:21188600-21192600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:21189000-21192200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:21189000-21192400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:21190200-21190800	Strong transcription	Dnd41	blood
14	chr19:21190200-21192400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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