Variant report

Variant	rs6694893
Chromosome Location	chr1:79299115-79299116
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1061728	0.86[CEU][hapmap]
rs11162565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021727	0.87[CEU][hapmap]
rs12026347	0.96[ASN][1000 genomes]
rs12037077	0.87[ASN][1000 genomes]
rs12037897	0.86[ASN][1000 genomes]
rs12401934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1248483	0.96[ASN][1000 genomes]
rs1489398	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1532102	0.82[ASN][1000 genomes]
rs1552571	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552572	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552573	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1632786	0.86[ASN][1000 genomes]
rs1686340	0.92[ASN][1000 genomes]
rs1686342	0.89[ASN][1000 genomes]
rs1780709	0.90[ASN][1000 genomes]
rs1780731	0.92[ASN][1000 genomes]
rs1937016	0.88[ASN][1000 genomes]
rs2054927	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2352520	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2801027	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28813447	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2932176	0.89[ASN][1000 genomes]
rs2932177	0.84[ASN][1000 genomes]
rs2996691	0.92[ASN][1000 genomes]
rs2996693	0.83[ASN][1000 genomes]
rs2996694	0.82[ASN][1000 genomes]
rs3012079	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012080	0.90[ASN][1000 genomes]
rs3012084	0.96[ASN][1000 genomes]
rs4284216	0.86[ASN][1000 genomes]
rs4515744	0.91[ASN][1000 genomes]
rs6680564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355057	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79295800-79300000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:79296000-79299200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:79296000-79299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:79296000-79300000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:79296000-79300200	Enhancers	NH-A	brain
6	chr1:79296000-79300200	Enhancers	NHDF-Ad	bronchial
7	chr1:79296000-79300200	Enhancers	Osteobl	bone
8	chr1:79296800-79300200	Enhancers	HMEC	breast
9	chr1:79297000-79299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:79297000-79300400	Enhancers	HSMM	muscle
11	chr1:79297000-79300400	Enhancers	HUVEC	blood vessel
12	chr1:79297200-79299800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:79297400-79299400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:79297400-79299600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:79297600-79299800	Enhancers	Hela-S3	cervix
16	chr1:79297800-79299800	Enhancers	NHEK	skin
17	chr1:79298000-79299200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:79298000-79299800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:79298000-79300000	Enhancers	NHLF	lung
20	chr1:79298800-79299200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:79298800-79300000	Enhancers	Fetal Kidney	kidney
22	chr1:79299000-79299200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:79299000-79302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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