Variant report

Variant	rs9493044
Chromosome Location	chr6:131990751-131990752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10080319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17060551	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56776570	0.94[EUR][1000 genomes]
rs73552660	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7740541	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7744355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762879	0.80[AFR][1000 genomes]
rs9321305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9321306	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483312	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9483316	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483317	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9483318	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9483320	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493047	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493051	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493052	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9493055	0.83[AMR][1000 genomes];0.94[EUR][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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131974400-131992400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:131976000-131996600	Weak transcription	Fetal Intestine Large	intestine
4	chr6:131976200-131996800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:131977000-131997000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:131981800-131992400	Weak transcription	K562	blood
7	chr6:131986800-132009600	Strong transcription	HepG2	liver
8	chr6:131988600-131992400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:131989200-131991200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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

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