Variant report

Variant	rs4653900
Chromosome Location	chr1:224238250-224238251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11808698	1.00[EUR][1000 genomes]
rs4653495	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57413443	1.00[EUR][1000 genomes]
rs61110106	1.00[EUR][1000 genomes]
rs6604883	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6689279	1.00[EUR][1000 genomes]
rs73116483	1.00[EUR][1000 genomes]
rs73118461	1.00[EUR][1000 genomes]
rs7522421	1.00[EUR][1000 genomes]
rs7551343	1.00[EUR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv16231	chr1:224204343-224241314	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224232400-224240400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224236000-224238400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:224236000-224240000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224236000-224240200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:224237600-224238600	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:224238200-224238400	Enhancers	Osteobl	bone
7	chr1:224238200-224238600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:224238200-224238600	Enhancers	Small Intestine	intestine
9	chr1:224238200-224239000	Enhancers	HMEC	breast
10	chr1:224238200-224240200	Enhancers	HUVEC	blood vessel

Quick Search:

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

what's new

Quick links