Variant report

Variant	rs1930294
Chromosome Location	chr1:184195232-184195233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494576	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096871	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327140	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17515450	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17515519	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650659	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650661	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651181	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651188	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651198	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4651202	1.00[CEU][hapmap]
rs58517777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58777747	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333709	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516202	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7516328	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517860	1.00[ASN][1000 genomes]
rs7528912	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530685	1.00[ASN][1000 genomes]
rs7539063	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543122	1.00[ASN][1000 genomes]
rs884902	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9425331	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425622	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184182400-184195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:184192600-184197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184194000-184195600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:184194400-184195600	Enhancers	Fetal Brain Male	brain
5	chr1:184194800-184195600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:184195200-184195400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr1:184195200-184195400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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