Variant report

Variant	rs7939004
Chromosome Location	chr11:104648687-104648688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1147011	1.00[AMR][1000 genomes]
rs17102666	1.00[AMR][1000 genomes]
rs17102758	1.00[AMR][1000 genomes]
rs17102887	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102963	0.94[AFR][1000 genomes]
rs17103028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103069	1.00[AMR][1000 genomes]
rs57433482	1.00[AMR][1000 genomes]
rs7127216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104643800-104653200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:104646600-104649000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:104648000-104652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:104648000-104652600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:104648000-104652600	Weak transcription	HMEC	breast
6	chr11:104648200-104652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:104648200-104652400	Weak transcription	NHEK	skin
8	chr11:104648400-104649000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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