Variant report

Variant	rs10065601
Chromosome Location	chr5:147249613-147249614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10075872	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10075900	0.83[AFR][1000 genomes]
rs56384736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261368	0.80[AFR][1000 genomes]
rs73261392	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3397747	chr5:147245959-147250557	Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3321795	chr5:147247359-147251957	Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island	1 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	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
2	chr5:147247600-147260200	Weak transcription	Aorta	Aorta
3	chr5:147248800-147252000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
4	chr5:147248800-147253200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
5	chr5:147249000-147254400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:147249200-147255800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:147249400-147250800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:147249400-147251000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:147249400-147251000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:147249400-147251600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:147249400-147254000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:147249600-147250400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:147249600-147250400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:147249600-147250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:147249600-147251000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:147249600-147251000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:147249600-147251000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:147249600-147251200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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