Variant report

Variant	rs256977
Chromosome Location	chr5:114886310-114886311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114885994..114888714-chr5:114936441..114938676,2	K562	blood:
2	chr5:114884946..114886999-chr5:114921116..114924631,3	K562	blood:
3	chr5:114884990..114887012-chr5:114894509..114897041,2	K562	blood:

Variant related genes	Relation type
ENSG00000243414	Chromatin interaction
ENSG00000249249	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10038493	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041776	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10043094	0.86[ASN][1000 genomes]
rs10053572	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10073505	0.87[ASN][1000 genomes]
rs10079000	0.82[ASN][1000 genomes]
rs1015812	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13153908	0.83[ASN][1000 genomes]
rs13184723	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13356084	0.93[ASN][1000 genomes]
rs13357862	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2546484	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs256938	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256989	0.90[ASN][1000 genomes]
rs256995	0.88[ASN][1000 genomes]
rs372702	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6860557	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6878790	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6892071	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6893854	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6894123	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs746566	0.87[ASN][1000 genomes]
rs766454	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114881000-114886400	Weak transcription	Stomach Mucosa	stomach
2	chr5:114881000-114893200	Weak transcription	Right Ventricle	heart
3	chr5:114881200-114887200	Weak transcription	NH-A	brain
4	chr5:114881400-114886400	Weak transcription	Fetal Lung	lung
5	chr5:114881400-114886800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:114882600-114886600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:114885400-114886600	Weak transcription	GM12878-XiMat	blood
8	chr5:114885600-114886400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:114885600-114886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:114885800-114886400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:114886000-114886600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:114886200-114886800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:114886200-114886800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links