Variant report

Variant	rs12401934
Chromosome Location	chr1:79300637-79300638
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	chr1:79299275..79301209-chr1:79305174..79307511,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11162565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026347	0.96[ASN][1000 genomes]
rs12037077	0.87[ASN][1000 genomes]
rs12037897	0.86[ASN][1000 genomes]
rs1248483	0.96[ASN][1000 genomes]
rs1489398	0.88[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	0.84[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	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2352520	0.92[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv945970	chr1:79300251-79301641	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79299000-79302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:79299200-79302600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:79299200-79302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:79299600-79302600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:79299800-79302400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:79299800-79302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:79300000-79302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:79300000-79302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:79300200-79301400	Weak transcription	NH-A	brain
10	chr1:79300200-79301600	Weak transcription	NHDF-Ad	bronchial
11	chr1:79300200-79302400	Weak transcription	Osteobl	bone
12	chr1:79300400-79302400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:79300400-79302800	Weak transcription	HUVEC	blood vessel
14	chr1:79300400-79305600	Weak transcription	HSMM	muscle

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