Variant report

Variant	rs17502508
Chromosome Location	chr4:150631650-150631651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17026283	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34126891	0.90[ASN][1000 genomes]
rs55976078	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv880253	chr4:150398982-150655652	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1023082	chr4:150548838-150674670	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv964730	chr4:150624934-150633213	Enhancers Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150628600-150632400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:150628800-150636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:150629000-150633200	Weak transcription	Right Atrium	heart
4	chr4:150629800-150632600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:150630600-150631800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr4:150630600-150632400	Weak transcription	Fetal Heart	heart
7	chr4:150631000-150637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:150631200-150633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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