Variant report

Variant	rs2963378
Chromosome Location	chr5:8944184-8944185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10041846	0.98[ASN][1000 genomes]
rs10041919	0.98[ASN][1000 genomes]
rs10054409	0.81[ASN][1000 genomes]
rs10056304	0.98[ASN][1000 genomes]
rs10063772	0.98[ASN][1000 genomes]
rs10071060	0.98[ASN][1000 genomes]
rs10075100	0.81[ASN][1000 genomes]
rs10076099	0.98[ASN][1000 genomes]
rs10078563	0.98[ASN][1000 genomes]
rs10475451	0.98[ASN][1000 genomes]
rs13359226	0.98[ASN][1000 genomes]
rs13360003	0.93[ASN][1000 genomes]
rs13361453	0.93[ASN][1000 genomes]
rs28883306	0.98[ASN][1000 genomes]
rs2962649	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2962714	0.81[ASN][1000 genomes]
rs2962722	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2962727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4331865	0.98[ASN][1000 genomes]
rs4422505	0.98[ASN][1000 genomes]
rs4501310	0.98[ASN][1000 genomes]
rs7717279	0.98[ASN][1000 genomes]
rs7724970	0.98[ASN][1000 genomes]
rs7735883	0.98[ASN][1000 genomes]
rs9313263	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	esv3492014	chr5:8749469-9004066	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3492015	chr5:8749469-9004066	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830199	chr5:8855056-9024096	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1016483	chr5:8908533-8978530	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1020587	chr5:8910149-8976370	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv537639	chr5:8910149-8976370	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv1026907	chr5:8929514-8958258	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv969990	chr5:8934758-8947357	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	esv3364860	chr5:8936001-8950897	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8943400-8944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:8943400-8944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:8943400-8944400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:8943400-8944400	Enhancers	Osteobl	bone
5	chr5:8943400-8944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:8943400-8944600	Enhancers	NHDF-Ad	bronchial
7	chr5:8943400-8944800	Enhancers	NHLF	lung
8	chr5:8943600-8944400	Enhancers	NH-A	brain
9	chr5:8943600-8944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:8943800-8944400	Enhancers	Fetal Lung	lung
11	chr5:8944000-8980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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