Variant report

Variant	rs1393224
Chromosome Location	chr5:75489991-75489992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1002541	1.00[JPT][hapmap]
rs10040232	1.00[JPT][hapmap]
rs10064352	1.00[JPT][hapmap]
rs10514062	1.00[JPT][hapmap]
rs12153396	0.86[CHB][hapmap]
rs12655684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12657276	1.00[JPT][hapmap]
rs13160008	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17651269	0.88[CHB][hapmap]
rs2055439	1.00[JPT][hapmap]
rs2194177	0.88[CHB][hapmap]
rs2358531	1.00[JPT][hapmap]
rs34637655	0.86[EUR][1000 genomes]
rs34658750	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6453208	1.00[JPT][hapmap]
rs6868505	1.00[JPT][hapmap]
rs72773756	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75486200-75490200	Enhancers	Placenta	Placenta
2	chr5:75487600-75490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:75489200-75490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:75489200-75490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:75489400-75490400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:75489400-75490400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:75489400-75490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links