Variant report

Variant	rs12126304
Chromosome Location	chr1:113747055-113747056
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	chr1:113745940..113748436-chr1:113750123..113752208,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11102586	0.83[EUR][1000 genomes]
rs12117273	0.83[EUR][1000 genomes]
rs12118061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118532	0.83[EUR][1000 genomes]
rs12118642	1.00[ASN][1000 genomes]
rs12119387	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120738	0.83[EUR][1000 genomes]
rs12123072	0.83[EUR][1000 genomes]
rs12123519	0.83[EUR][1000 genomes]
rs12123601	0.83[EUR][1000 genomes]
rs12124148	1.00[ASN][1000 genomes]
rs12125675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128658	0.83[EUR][1000 genomes]
rs12129858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133057	0.83[EUR][1000 genomes]
rs12136395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137299	0.83[EUR][1000 genomes]
rs12139726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140651	1.00[ASN][1000 genomes]
rs12140676	1.00[ASN][1000 genomes]
rs12140810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141415	0.83[EUR][1000 genomes]
rs12141540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143171	0.83[EUR][1000 genomes]
rs12143341	0.83[EUR][1000 genomes]
rs12143430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145738	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216767	0.83[EUR][1000 genomes]
rs1216808	0.83[EUR][1000 genomes]
rs12184272	0.83[EUR][1000 genomes]
rs12184320	0.83[EUR][1000 genomes]
rs12744661	0.83[EUR][1000 genomes]
rs1310142	0.83[EUR][1000 genomes]
rs1618794	0.83[EUR][1000 genomes]
rs17031006	0.83[EUR][1000 genomes]
rs1728229	0.83[EUR][1000 genomes]
rs1766864	0.83[EUR][1000 genomes]
rs6695183	0.83[EUR][1000 genomes]
rs72685641	1.00[ASN][1000 genomes]
rs7518115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541703	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
4	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113741800-113752200	Weak transcription	Lung	lung
2	chr1:113743000-113748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:113743000-113748800	Weak transcription	Stomach Mucosa	stomach
4	chr1:113743200-113747600	Weak transcription	Fetal Kidney	kidney
5	chr1:113743400-113748600	Weak transcription	K562	blood
6	chr1:113743400-113751800	Weak transcription	Pancreas	Pancrea
7	chr1:113745200-113753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:113745400-113749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:113745400-113754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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