Variant report

Variant	rs10878468
Chromosome Location	chr12:67008152-67008153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10506489	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10506491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878474	0.89[ASN][1000 genomes]
rs4310689	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61926089	1.00[EUR][1000 genomes]
rs61926093	1.00[EUR][1000 genomes]
rs61926097	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61926098	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61926105	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61926114	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61926115	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61926116	0.97[EUR][1000 genomes]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67006400-67009600	Weak transcription	GM12878-XiMat	blood
2	chr12:67007600-67009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:67007800-67008600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:67007800-67010200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:67007800-67010200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:67007800-67010200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:67008000-67010200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:67008000-67010200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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