Variant report

Variant	rs442919
Chromosome Location	chr5:118883215-118883216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs257970	0.81[CEU][hapmap]
rs26181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26184	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2636961	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2636962	0.87[ASN][1000 genomes]
rs2636964	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2636968	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2678070	1.00[CHB][hapmap]
rs2678074	0.87[ASN][1000 genomes]
rs2678076	1.00[ASN][1000 genomes]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs32651	1.00[CHB][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs389760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs450118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs463098	0.81[CEU][hapmap]
rs463513	1.00[CHB][hapmap]
rs467076	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv968237	chr5:118881981-118883708	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
2	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
3	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
4	chr5:118878800-118888600	Weak transcription	Ovary	ovary
5	chr5:118879000-118884200	Weak transcription	Lung	lung
6	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
10	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:118881400-118890000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:118883200-118883400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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