Variant report

Variant	rs4657758
Chromosome Location	chr1:193627537-193627538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1967827	0.81[AFR][1000 genomes]
rs2370438	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6428190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv33988	chr1:193626177-193634262	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193624400-193628600	Weak transcription	Left Ventricle	heart
2	chr1:193624400-193629000	Weak transcription	Aorta	Aorta
3	chr1:193624800-193629000	Weak transcription	HSMMtube	muscle
4	chr1:193626000-193635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:193627200-193628000	Enhancers	Colon Smooth Muscle	Colon
6	chr1:193627400-193627600	Enhancers	Small Intestine	intestine
7	chr1:193627400-193627800	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:193627400-193628000	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:193627400-193628400	Enhancers	Fetal Brain Male	brain
10	chr1:193627400-193628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:193627400-193631000	Enhancers	Fetal Heart	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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