Variant report

Variant	rs9991408
Chromosome Location	chr4:82047894-82047895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10013976	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1023721	0.81[EUR][1000 genomes]
rs10516376	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12647061	0.81[EUR][1000 genomes]
rs1425336	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16870621	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1834350	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28420737	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28655062	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4090720	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6832734	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858323	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73247401	0.81[EUR][1000 genomes]
rs73249503	0.81[EUR][1000 genomes]
rs73249506	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73249509	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73249518	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:82025400-82051600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:82028200-82050600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:82030000-82051200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:82032800-82051200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:82035400-82052800	Weak transcription	NHDF-Ad	bronchial
6	chr4:82036800-82052200	Weak transcription	Fetal Brain Female	brain
7	chr4:82043800-82050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:82045600-82048200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:82046000-82050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:82046000-82058600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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