Variant report

Variant	rs34212847
Chromosome Location	chr5:147261610-147261611
allele	C/T
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:6)

rs_ID	r²[population]
rs12171506	1.00[EUR][1000 genomes]
rs17717656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17717793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052497	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278377	0.85[ASN][1000 genomes]
rs6859774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
2	chr5:147254800-147262200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:147255200-147262000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:147256000-147262400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:147256200-147262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:147256600-147262200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:147257800-147262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:147258200-147262200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:147258400-147262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:147258400-147262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:147259000-147262400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:147259800-147267200	Enhancers	Fetal Heart	heart
13	chr5:147260200-147262200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:147260400-147262200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:147260400-147262600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:147260600-147262200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:147261000-147262600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:147261400-147262200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:147261400-147267400	Weak transcription	Aorta	Aorta

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