Variant report

Variant	rs7978482
Chromosome Location	chr12:72365973-72365974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10784943	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879344	0.82[JPT][hapmap]
rs10879347	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11179003	0.82[JPT][hapmap]
rs11179004	0.82[JPT][hapmap]
rs11179015	0.82[JPT][hapmap]
rs11179017	0.82[JPT][hapmap]
rs11179018	0.82[JPT][hapmap]
rs11179022	0.82[JPT][hapmap]
rs12231408	0.82[JPT][hapmap]
rs1386488	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs1386492	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386493	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1843810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046582	0.84[CEU][hapmap]
rs2367899	0.84[CEU][hapmap]
rs6582072	0.85[CEU][hapmap];0.92[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299528	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1036178	chr12:72361408-72378599	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv275101	chr12:72365321-72370217	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72361200-72366200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:72361200-72366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:72361400-72366400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:72361800-72366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:72362000-72366400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:72362600-72366000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:72362600-72366400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:72363600-72366200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:72363600-72367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:72364200-72366200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:72365400-72366800	Weak transcription	Liver	Liver

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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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