Variant report

Variant	rs256978
Chromosome Location	chr5:114885896-114885897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10055677	0.81[CEU][hapmap]
rs12187973	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs13164545	0.85[CEU][hapmap]
rs171774	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs173965	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs173966	0.89[ASN][1000 genomes]
rs187682	0.83[ASN][1000 genomes]
rs2169771	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303747	0.84[CEU][hapmap]
rs2546486	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2546487	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2559990	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs256940	0.83[CHB][hapmap]
rs256942	0.81[CEU][hapmap]
rs256943	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs256944	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs256945	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs256951	0.81[CEU][hapmap]
rs256954	0.81[CEU][hapmap]
rs256956	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs256959	0.85[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs256964	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs256968	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs256969	0.87[ASN][1000 genomes]
rs256970	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256971	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256972	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256976	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs256980	0.83[ASN][1000 genomes]
rs256984	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs256986	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs256987	0.90[ASN][1000 genomes]
rs256988	0.90[ASN][1000 genomes]
rs256991	0.90[ASN][1000 genomes]
rs256993	0.90[ASN][1000 genomes]
rs256996	0.90[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs256997	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs256998	0.90[ASN][1000 genomes]
rs400570	0.81[CEU][hapmap]
rs415577	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs698365	0.81[CEU][hapmap]
rs698367	0.82[CEU][hapmap]
rs813761	0.91[CHB][hapmap];1.00[YRI][hapmap];0.80[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:12 , 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	chr5:114885600-114886000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:114885600-114886200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:114885600-114886400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:114885600-114886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:114885800-114886400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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