Variant report

Variant	rs1994364
Chromosome Location	chr4:119478724-119478725
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11098446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17595090	0.90[CEU][hapmap]
rs17595265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4103589	0.86[EUR][1000 genomes]
rs6836005	0.83[CHB][hapmap]
rs6837279	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6851570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv830044	chr4:119338702-119493534	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1994364	RP11-384K6.6	cis	Artery Tibial	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119474400-119479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:119477800-119479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:119477800-119479000	Enhancers	HMEC	breast
4	chr4:119478000-119478800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:119478000-119478800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:119478000-119479000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:119478000-119479000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:119478200-119479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:119478200-119479000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:119478200-119479000	Enhancers	NH-A	brain
11	chr4:119478400-119478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:119478400-119478800	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:119478600-119478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:119478600-119478800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:119478600-119478800	Enhancers	Brain Hippocampus Middle	brain
16	chr4:119478600-119479000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:119478600-119479000	Bivalent Enhancer	Dnd41	blood
18	chr4:119478600-119479000	Enhancers	Hela-S3	cervix
19	chr4:119478600-119479000	Enhancers	HSMM	muscle
20	chr4:119478600-119479000	Enhancers	HSMMtube	muscle
21	chr4:119478600-119479000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr4:119478600-119479000	Enhancers	Osteobl	bone

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