Variant report

Variant	rs7054006
Chromosome Location	chr1:171052662-171052663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10912559	1.00[AMR][1000 genomes]
rs10912597	1.00[AMR][1000 genomes]
rs12062612	1.00[AMR][1000 genomes]
rs12070707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072582	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073562	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082524	1.00[AMR][1000 genomes]
rs12354013	1.00[AMR][1000 genomes]
rs12354030	1.00[AMR][1000 genomes]
rs6661174	1.00[AMR][1000 genomes]
rs6664553	1.00[AMR][1000 genomes]
rs6671692	1.00[AMR][1000 genomes]
rs6672456	1.00[AMR][1000 genomes]
rs6701702	1.00[AMR][1000 genomes]
rs73030605	1.00[AMR][1000 genomes]
rs7517460	1.00[AMR][1000 genomes]
rs7536646	1.00[AMR][1000 genomes]
rs7536745	1.00[AMR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171050200-171053800	Enhancers	Fetal Intestine Large	intestine
2	chr1:171050600-171052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:171050600-171052800	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:171050600-171053600	Enhancers	Fetal Intestine Small	intestine
5	chr1:171050600-171053600	Enhancers	Fetal Lung	lung
6	chr1:171051000-171052800	Weak transcription	Fetal Heart	heart
7	chr1:171051000-171053200	Weak transcription	Stomach Mucosa	stomach
8	chr1:171051400-171052800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:171051400-171052800	Enhancers	NHLF	lung
10	chr1:171051400-171054000	Weak transcription	Fetal Kidney	kidney
11	chr1:171052000-171053000	Flanking Active TSS	Liver	Liver
12	chr1:171052400-171052800	Enhancers	Ovary	ovary
13	chr1:171052400-171053000	Enhancers	Left Ventricle	heart
14	chr1:171052400-171053000	Enhancers	Small Intestine	intestine
15	chr1:171052600-171052800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:171052600-171052800	Enhancers	Right Ventricle	heart

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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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