Variant report

Variant	rs2664388
Chromosome Location	chr8:131801917-131801918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1119768	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1594998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166402	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs185510	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs263233	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263236	0.84[EUR][1000 genomes]
rs263248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263266	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs263270	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2664391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs377711	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs398267	0.93[AMR][1000 genomes];0.87[EUR][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	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3443685	chr8:131797770-131802068	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131789600-131814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:131790000-131813800	Weak transcription	Brain Substantia Nigra	brain
3	chr8:131791600-131814000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:131800000-131803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131800000-131814600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:131801200-131802000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:131801200-131802000	Enhancers	NHEK	skin
8	chr8:131801400-131802000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:131801400-131802000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:131801400-131802200	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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