Variant report

Variant	rs4653495
Chromosome Location	chr1:224242030-224242031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11808698	1.00[EUR][1000 genomes]
rs4653900	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57413443	1.00[EUR][1000 genomes]
rs61110106	1.00[EUR][1000 genomes]
rs6604883	1.00[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:4 , 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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224238800-224242400	Weak transcription	Right Atrium	heart
2	chr1:224238800-224244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:224241000-224242600	Enhancers	HUVEC	blood vessel
4	chr1:224241000-224245000	Weak transcription	NHEK	skin
5	chr1:224241000-224245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:224241000-224245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224241200-224245000	Weak transcription	HMEC	breast
10	chr1:224241200-224245400	Weak transcription	HSMM	muscle
11	chr1:224241200-224245400	Weak transcription	NH-A	brain
12	chr1:224241200-224245600	Weak transcription	NHDF-Ad	bronchial
13	chr1:224241400-224242400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:224241400-224245000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:224241800-224242200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:224241800-224245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:224241800-224245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:224242000-224245200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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