Variant report

Variant	rs2494187
Chromosome Location	chr1:210273886-210273887
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1016479	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1099864	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17188183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142857	0.87[AMR][1000 genomes]
rs2205986	0.82[ASN][1000 genomes]
rs2205990	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs227185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs227192	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227208	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227214	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs227215	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2357211	0.82[ASW][hapmap];0.92[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs2451693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2484029	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2494188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2743892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820393	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61827913	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827915	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827917	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827918	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827920	0.91[ASN][1000 genomes]
rs61827921	0.91[ASN][1000 genomes]
rs6540571	0.82[ASW][hapmap];0.88[GIH][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs719034	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs846547	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs923561	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873141	chr1:210228131-210296910	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv873142	chr1:210233610-210291121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv873143	chr1:210233610-210296910	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv818800	chr1:210258653-210304319	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210250800-210278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:210257800-210275000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:210260600-210285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:210262000-210279600	Weak transcription	NH-A	brain
5	chr1:210266400-210279000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:210268400-210287400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:210269000-210278400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:210273200-210274000	Enhancers	Fetal Brain Female	brain
9	chr1:210273200-210275000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210273400-210274200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:210273400-210274400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:210273600-210284600	Weak transcription	Muscle Satellite Cultured Cells	--

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