Variant report

Variant	rs6469661
Chromosome Location	chr8:117841045-117841046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10088781	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10089483	0.91[EUR][1000 genomes]
rs10103509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993161	0.86[AFR][1000 genomes]
rs6469662	0.82[ASN][1000 genomes]
rs6981342	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824338	0.82[AMR][1000 genomes]
rs7830741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1027259	chr8:117790928-117842055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6469661	RAD21	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117839000-117841600	Enhancers	Fetal Muscle Leg	muscle
2	chr8:117839200-117841600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:117839400-117844400	Weak transcription	Psoas Muscle	Psoas
4	chr8:117840200-117841600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:117840200-117842000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:117840400-117841200	Weak transcription	Fetal Stomach	stomach
7	chr8:117840400-117841400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:117840600-117842200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:117840600-117845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:117840800-117841600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:117840800-117841800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:117840800-117841800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:117840800-117842000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:117840800-117842000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:117841000-117842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:117841000-117842200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:117841000-117843600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:117841000-117856800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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

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