Variant report

Variant	rs34107416
Chromosome Location	chr5:90620123-90620124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90617681..90620260-chr5:90671703..90674445,3	K562	blood:
2	chr5:90617175..90620471-chr5:90674787..90678381,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12658394	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2175437	0.88[AMR][1000 genomes]
rs28369128	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56876862	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57859727	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58781250	0.86[ASN][1000 genomes]
rs67220802	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67863612	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6888057	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786318	0.94[AMR][1000 genomes]
rs72786321	0.84[AMR][1000 genomes]
rs72786324	0.84[AMR][1000 genomes]
rs72786325	0.89[AMR][1000 genomes]
rs72786326	0.94[AMR][1000 genomes]
rs72786338	0.94[AMR][1000 genomes]
rs72786350	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786353	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786359	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72786360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9647558	0.94[AMR][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv441956	chr5:90614420-90621065	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2421594	chr5:90614420-90621069	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv514314	chr5:90614756-90620964	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv21145	chr5:90618564-90623946	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90613800-90624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90619200-90620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:90619400-90620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:90619400-90620600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:90620000-90620400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:90620000-90620600	Weak transcription	Fetal Stomach	stomach
8	chr5:90620000-90621200	Enhancers	Stomach Smooth Muscle	stomach

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