Variant report

Variant	rs10878551
Chromosome Location	chr12:40812123-40812124
allele	C/T
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: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10784461	0.81[JPT][hapmap]
rs10784470	0.87[JPT][hapmap]
rs10784522	1.00[JPT][hapmap]
rs10784595	0.87[CHB][hapmap]
rs10784596	0.87[CHB][hapmap]
rs10878405	1.00[JPT][hapmap]
rs10878552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175769	0.82[JPT][hapmap]
rs11175784	0.89[JPT][hapmap]
rs11175845	0.89[JPT][hapmap]
rs11175847	0.88[JPT][hapmap]
rs11175862	0.89[JPT][hapmap]
rs11175911	0.82[JPT][hapmap]
rs11175922	0.89[JPT][hapmap]
rs11176030	1.00[JPT][hapmap]
rs11176495	0.87[CHB][hapmap]
rs11564148	1.00[JPT][hapmap]
rs11611510	0.89[ASN][1000 genomes]
rs12146857	0.89[JPT][hapmap]
rs12367542	1.00[JPT][hapmap]
rs12369882	0.89[JPT][hapmap]
rs12820920	0.88[JPT][hapmap]
rs17443815	0.82[JPT][hapmap]
rs17444124	0.94[JPT][hapmap]
rs17444605	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519846	0.84[JPT][hapmap]
rs1820544	0.86[CHB][hapmap]
rs2404840	0.83[CHB][hapmap]
rs3952596	0.91[ASN][1000 genomes]
rs4293189	0.82[JPT][hapmap]
rs4768230	1.00[JPT][hapmap]
rs7137809	0.87[CHB][hapmap]
rs7302841	1.00[JPT][hapmap]
rs7308560	0.82[CHB][hapmap]
rs7309197	0.89[JPT][hapmap]
rs7310390	0.83[CHB][hapmap]
rs7312118	0.89[ASN][1000 genomes]
rs7956721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957367	1.00[CEU][hapmap]
rs7957754	0.89[JPT][hapmap]
rs7958987	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972535	0.86[CHB][hapmap]
rs7973058	1.00[JPT][hapmap]
rs994798	0.87[CHB][hapmap]

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	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
11	nsv558603	chr12:40809387-40825487	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv470287	chr12:40809387-40825845	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 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	chr12:40799600-40813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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