Variant report

Variant	rs1427262
Chromosome Location	chr12:40798608-40798609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000258167	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1122621	1.00[JPT][hapmap]
rs1122863	1.00[JPT][hapmap]
rs11564109	1.00[JPT][hapmap]
rs11564134	0.82[YRI][hapmap]
rs11564172	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11564174	0.85[YRI][hapmap]
rs11564188	0.85[YRI][hapmap]
rs11564208	0.85[YRI][hapmap]
rs11564245	0.91[EUR][1000 genomes]
rs11564254	0.82[YRI][hapmap]
rs11564257	0.82[YRI][hapmap]
rs11835808	1.00[JPT][hapmap]
rs1492329	1.00[JPT][hapmap]
rs17128391	1.00[JPT][hapmap]
rs17128401	1.00[JPT][hapmap]
rs17444306	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444481	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444494	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444709	0.92[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466886	1.00[ASN][1000 genomes]
rs17519531	0.85[YRI][hapmap]
rs17529964	1.00[JPT][hapmap]
rs17533153	1.00[JPT][hapmap]
rs17589334	1.00[JPT][hapmap]
rs17599001	1.00[JPT][hapmap]
rs17599042	1.00[JPT][hapmap]
rs17599666	1.00[JPT][hapmap]
rs17600388	1.00[JPT][hapmap]
rs2896981	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33962975	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767983	1.00[JPT][hapmap]
rs4768239	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768246	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768291	1.00[JPT][hapmap]
rs7309042	1.00[JPT][hapmap]
rs73094979	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107149	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315186	1.00[JPT][hapmap]
rs7315719	0.85[YRI][hapmap]
rs7315853	0.85[YRI][hapmap]
rs7959536	1.00[JPT][hapmap]
rs7960976	1.00[JPT][hapmap]
rs7974320	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv983242	chr12:40797402-40802980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40787200-40799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:40793800-40799400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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