Variant report

Variant	rs60948214
Chromosome Location	chr4:26798400-26798401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10470821	1.00[AMR][1000 genomes]
rs28375187	1.00[AMR][1000 genomes]
rs28396202	1.00[AMR][1000 genomes]
rs28495049	1.00[AMR][1000 genomes]
rs28728323	1.00[AMR][1000 genomes]
rs9997143	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1005550	chr4:26778410-26824285	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	8 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	chr4:26790000-26813400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:26790600-26799800	Weak transcription	Fetal Stomach	stomach
3	chr4:26791200-26813400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:26793400-26804800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:26795000-26813400	Weak transcription	Spleen	Spleen
6	chr4:26797200-26816800	Weak transcription	Stomach Mucosa	stomach
7	chr4:26797600-26798400	Enhancers	Fetal Brain Male	brain
8	chr4:26797800-26799200	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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