Variant report

Variant	rs28391448
Chromosome Location	chr4:152910067-152910068
allele	C/T
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]
rs10030608	1.00[AMR][1000 genomes]
rs10033770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028060	1.00[AMR][1000 genomes]
rs28704615	1.00[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152899400-152910600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:152904800-152913400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:152905200-152910200	Weak transcription	Hela-S3	cervix
4	chr4:152906000-152912600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:152906000-152913600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:152909000-152913200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:152910000-152910200	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:152910000-152910200	Enhancers	Stomach Smooth Muscle	stomach
9	chr4:152910000-152910400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:152910000-152910800	Enhancers	Spleen	Spleen
11	chr4:152910000-152912200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr4:152910000-152915200	Enhancers	Fetal Brain Male	brain
13	chr4:152910000-152915800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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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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