Variant report

Variant	rs4689730
Chromosome Location	chr4:7404656-7404657
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4689728	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4689729	0.91[ASN][1000 genomes]
rs7666482	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9994168	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv3437934	chr4:7400351-7405049	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv878560	chr4:7402284-7475114	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7400000-7404800	Weak transcription	Left Ventricle	heart
2	chr4:7400200-7404800	Weak transcription	Pancreas	Pancrea
3	chr4:7403200-7405400	Enhancers	Stomach Mucosa	stomach
4	chr4:7404000-7405400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:7404000-7405400	Enhancers	HMEC	breast
6	chr4:7404200-7405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:7404200-7405400	Enhancers	Colon Smooth Muscle	Colon
8	chr4:7404200-7405400	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:7404200-7405400	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:7404400-7405200	Enhancers	Fetal Stomach	stomach
11	chr4:7404400-7405200	Enhancers	Right Ventricle	heart
12	chr4:7404400-7405200	Enhancers	NHEK	skin
13	chr4:7404600-7405400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:7404600-7405400	Enhancers	Duodenum Smooth Muscle	Duodenum

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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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