Variant report

Variant	rs73117291
Chromosome Location	chr5:68386542-68386543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28546615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr5:68381200-68389400	Weak transcription	HUVEC	blood vessel
2	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
3	chr5:68385800-68387800	Enhancers	Fetal Heart	heart
4	chr5:68386000-68387000	Enhancers	K562	blood
5	chr5:68386200-68387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:68386400-68387600	Enhancers	GM12878-XiMat	blood
8	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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