Variant report

Variant	rs28392862
Chromosome Location	chr4:120223323-120223324
allele	A/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:3)

rs_ID	r²[population]
rs28493447	0.82[AFR][1000 genomes]
rs72910601	0.91[AFR][1000 genomes]
rs72914416	0.91[AFR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120223400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:120222200-120223400	Weak transcription	HSMMtube	muscle
4	chr4:120222200-120223600	Enhancers	Fetal Heart	heart
5	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:120222400-120227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:120222400-120229000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:120222400-120240800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:120222600-120223400	Enhancers	Liver	Liver
10	chr4:120222600-120224800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:120222800-120224000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:120222800-120240800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:120223000-120224200	Enhancers	HepG2	liver
14	chr4:120223200-120223400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:120223200-120223400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:120223200-120223400	Enhancers	GM12878-XiMat	blood
17	chr4:120223200-120227800	Weak transcription	Fetal Intestine Large	intestine

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Input of quick search could be:

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

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