Variant report

Variant	rs74140985
Chromosome Location	chr1:228313314-228313315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228312167..228314793-chr1:228333464..228337052,3	K562	blood:
2	chr1:228308544..228310865-chr1:228311880..228313526,2	MCF-7	breast:
3	chr1:228296008..228299455-chr1:228310076..228314109,6	MCF-7	breast:
4	chr1:228309213..228312367-chr1:228313234..228315768,3	K562	blood:

Variant related genes	Relation type
ENSG00000162910	Chromatin interaction
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12026579	0.92[AMR][1000 genomes]
rs12031390	0.92[AMR][1000 genomes]
rs12038612	0.92[AMR][1000 genomes]
rs12039528	0.92[AMR][1000 genomes]
rs12040506	0.92[AMR][1000 genomes]
rs12044962	0.92[AMR][1000 genomes]
rs12049152	0.92[AMR][1000 genomes]
rs2298013	0.92[AMR][1000 genomes]
rs3754358	0.92[AMR][1000 genomes]
rs3754359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55686465	0.85[AFR][1000 genomes]
rs56003736	0.85[AFR][1000 genomes]
rs56029925	0.85[AFR][1000 genomes]
rs56080014	0.93[AFR][1000 genomes]
rs56154605	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58045861	0.93[AFR][1000 genomes]
rs61230585	0.85[AFR][1000 genomes]
rs74140905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74140910	0.85[AFR][1000 genomes]
rs74140916	0.85[AFR][1000 genomes]
rs74140919	0.85[AFR][1000 genomes]
rs74140923	0.85[AFR][1000 genomes]
rs74140953	0.85[AFR][1000 genomes]
rs74140954	0.85[AFR][1000 genomes]
rs74140955	0.85[AFR][1000 genomes]
rs74140956	0.85[AFR][1000 genomes]
rs74140957	0.85[AFR][1000 genomes]
rs74140962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74140963	0.85[AFR][1000 genomes]
rs74140967	0.85[AFR][1000 genomes]
rs74140968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74140971	0.93[AFR][1000 genomes]
rs74140972	0.93[AFR][1000 genomes]
rs74140973	0.93[AFR][1000 genomes]
rs74140974	0.93[AFR][1000 genomes]
rs74140975	0.93[AFR][1000 genomes]
rs74140976	0.93[AFR][1000 genomes]
rs74140977	0.93[AFR][1000 genomes]
rs74140978	0.93[AFR][1000 genomes]
rs74140980	0.93[AFR][1000 genomes]
rs74140981	0.93[AFR][1000 genomes]
rs74140982	0.93[AFR][1000 genomes]
rs74143629	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74143633	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
5	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228309200-228314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:228309600-228314200	Enhancers	Fetal Intestine Small	intestine
3	chr1:228309800-228314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:228310000-228313400	Enhancers	Fetal Intestine Large	intestine
5	chr1:228312600-228313400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:228313000-228315200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:228313200-228313800	Enhancers	K562	blood
8	chr1:228313200-228314600	Weak transcription	Duodenum Mucosa	Duodenum

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