Variant report

Variant	rs73678265
Chromosome Location	chr8:49200426-49200427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16935762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16935785	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16937140	1.00[AMR][1000 genomes]
rs34485305	0.87[AFR][1000 genomes]
rs4584166	0.85[AFR][1000 genomes]
rs55664150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55770570	0.87[AFR][1000 genomes]
rs55997545	0.85[AFR][1000 genomes]
rs56172225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57059132	0.85[AFR][1000 genomes]
rs57774160	0.85[AFR][1000 genomes]
rs58676807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678257	0.85[AFR][1000 genomes]
rs73678258	0.85[AFR][1000 genomes]
rs73678260	0.85[AFR][1000 genomes]
rs73678261	0.85[AFR][1000 genomes]
rs73678262	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678272	1.00[AFR][1000 genomes]
rs73678273	1.00[AFR][1000 genomes]
rs73678276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819699	1.00[AMR][1000 genomes]
rs7822677	0.85[AFR][1000 genomes]
rs7828670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832673	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49197000-49200600	Weak transcription	HUVEC	blood vessel
3	chr8:49197000-49207200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:49197000-49212200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:49199400-49200800	Enhancers	Fetal Lung	lung
6	chr8:49199400-49202200	Enhancers	Fetal Stomach	stomach
7	chr8:49199600-49201000	Enhancers	NHDF-Ad	bronchial
8	chr8:49199600-49202000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:49199800-49201200	Enhancers	Fetal Brain Female	brain
10	chr8:49199800-49201600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:49199800-49203600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:49200000-49202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:49200200-49202000	Enhancers	Fetal Brain Male	brain
14	chr8:49200400-49200800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:49200400-49201600	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:49200400-49201800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:49200400-49202200	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:49200400-49202200	Enhancers	NHLF	lung

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