Variant report

Variant	rs7538813
Chromosome Location	chr1:113696439-113696440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11102586	0.86[EUR][1000 genomes]
rs11102588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11102592	1.00[CEU][hapmap]
rs12117273	0.86[EUR][1000 genomes]
rs12118532	0.86[EUR][1000 genomes]
rs12120738	0.86[EUR][1000 genomes]
rs12123072	0.86[EUR][1000 genomes]
rs12123519	0.86[EUR][1000 genomes]
rs12123601	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12128658	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12129858	1.00[CEU][hapmap]
rs12133057	0.86[EUR][1000 genomes]
rs12136941	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs12137299	0.86[EUR][1000 genomes]
rs12141415	0.86[EUR][1000 genomes]
rs12143171	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12143341	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12145713	0.84[GIH][hapmap];1.00[TSI][hapmap]
rs1216767	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216769	1.00[CEU][hapmap]
rs1216793	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1216798	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1216807	1.00[CEU][hapmap]
rs1216808	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1216813	1.00[CEU][hapmap]
rs12184272	0.86[EUR][1000 genomes]
rs12184320	0.86[EUR][1000 genomes]
rs12744661	0.86[EUR][1000 genomes]
rs1310142	0.86[EUR][1000 genomes]
rs1618794	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17031006	0.86[EUR][1000 genomes]
rs17031214	1.00[MEX][hapmap]
rs1728229	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1766864	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1766865	1.00[CEU][hapmap]
rs1778017	1.00[CEU][hapmap]
rs1778019	1.00[CEU][hapmap]
rs41296184	1.00[EUR][1000 genomes]
rs4839291	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4839292	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6670587	1.00[CEU][hapmap]
rs6695183	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs74111210	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74111213	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531847	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7545814	1.00[CEU][hapmap]
rs946215	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113692200-113698600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:113694200-113698200	Enhancers	HepG2	liver
3	chr1:113695400-113696600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:113695600-113696600	Enhancers	Adipose Nuclei	Adipose
5	chr1:113695600-113696600	Enhancers	Fetal Intestine Large	intestine
6	chr1:113696000-113696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:113696000-113696600	Enhancers	Brain Anterior Caudate	brain

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