Variant report

Variant	rs17444730
Chromosome Location	chr12:40806480-40806481
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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506155	1.00[CHB][hapmap]
rs1072087	0.92[ASN][1000 genomes]
rs10784451	1.00[CHB][hapmap]
rs10784532	0.93[CHB][hapmap]
rs10878258	0.80[CHB][hapmap]
rs10878278	0.93[CHB][hapmap]
rs10878343	0.93[CHB][hapmap]
rs10878356	1.00[CHB][hapmap]
rs10878372	1.00[CHB][hapmap]
rs11175843	0.93[CHB][hapmap]
rs11175935	0.93[CHB][hapmap]
rs11175958	0.93[CHB][hapmap]
rs11175966	0.93[CHB][hapmap]
rs11176118	0.93[CHB][hapmap];0.83[YRI][hapmap]
rs11176153	0.93[CHB][hapmap];0.84[YRI][hapmap]
rs11176386	0.80[ASN][1000 genomes]
rs11176418	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11176423	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176584	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564110	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11564263	0.87[ASN][1000 genomes]
rs11564270	0.93[CEU][hapmap]
rs11613829	1.00[CEU][hapmap]
rs12230935	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12368229	1.00[CHB][hapmap];0.81[YRI][hapmap]
rs17444223	0.93[CHB][hapmap]
rs17462055	0.93[CHB][hapmap];0.84[YRI][hapmap]
rs2162471	0.93[CHB][hapmap];0.84[YRI][hapmap]
rs2723264	0.93[CHB][hapmap]
rs61475818	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132187	0.93[CHB][hapmap]
rs7134379	0.87[CHB][hapmap]
rs7137173	1.00[CHB][hapmap]
rs715403	0.84[CHB][hapmap]
rs7303525	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs7311501	0.83[ASN][1000 genomes]
rs7311850	0.93[CHB][hapmap]
rs7966550	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7969677	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv558600	chr12:40802840-40820632	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv558601	chr12:40802840-40824917	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv558602	chr12:40802840-40825487	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2755842	chr12:40803788-40821478	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2755523	chr12:40804386-40821478	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 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	chr12:40799600-40813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:40806200-40807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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