Variant report

Variant	rs13257842
Chromosome Location	chr8:113665554-113665555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11776457	1.00[YRI][hapmap]
rs11787239	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11986076	0.85[ASN][1000 genomes]
rs13248739	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13254460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255029	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256271	0.87[ASN][1000 genomes]
rs13256724	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13258944	0.96[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]
rs13259225	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13259298	0.85[ASN][1000 genomes]
rs13261160	0.92[CEU][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs13261301	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264919	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs13266975	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs13267779	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13272429	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13275178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13275398	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs13276278	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs170760	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2194601	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs2216891	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231278	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231280	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231282	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231283	0.92[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs231284	0.87[ASN][1000 genomes]
rs231287	0.87[ASN][1000 genomes]
rs231288	0.92[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs231312	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs231313	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs231314	0.92[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs231315	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231317	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs231320	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs231321	0.85[ASN][1000 genomes]
rs231322	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[ASN][1000 genomes]
rs28830583	0.85[ASN][1000 genomes]
rs370168	0.82[CEU][hapmap];0.85[ASN][1000 genomes]
rs373880	0.92[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs56248947	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7013313	0.92[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a
7	nsv891325	chr8:113655596-113681944	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a
8	nsv972567	chr8:113664277-113668400	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13257842	CD83	trans	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113636800-113680400	Weak transcription	HMEC	breast
3	chr8:113663400-113676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:113664400-113666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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