Variant report

Variant	rs8001040
Chromosome Location	chr13:93954172-93954173
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]
rs12874252	1.00[YRI][hapmap]
rs16948658	1.00[YRI][hapmap]
rs60253448	1.00[AMR][1000 genomes]
rs7328425	1.00[YRI][hapmap]
rs73540341	1.00[AMR][1000 genomes]
rs73540354	1.00[AMR][1000 genomes]
rs73554228	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73628654	1.00[AMR][1000 genomes]
rs73628694	1.00[AMR][1000 genomes]
rs73628695	1.00[AMR][1000 genomes]
rs74108506	1.00[AMR][1000 genomes]
rs74108508	1.00[AMR][1000 genomes]
rs74108509	1.00[AMR][1000 genomes]
rs7986020	1.00[AMR][1000 genomes]
rs9584109	1.00[AMR][1000 genomes]
rs9589718	1.00[AMR][1000 genomes]
rs9589719	1.00[AMR][1000 genomes]
rs9589723	1.00[AMR][1000 genomes]
rs9589725	1.00[AMR][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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 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	chr13:93942800-93955400	Weak transcription	A549	lung
2	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:93947000-93956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:93947000-93956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:93947200-93956400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:93947200-93957000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:93952200-93955600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:93952400-93965000	Weak transcription	Fetal Kidney	kidney
9	chr13:93953600-93956600	Weak transcription	HUES48 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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