Variant report

Variant	rs611531
Chromosome Location	chr4:119187632-119187633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119187535..119189508-chr4:119199337..119201369,2	K562	blood:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12501122	0.86[ASN][1000 genomes]
rs12504529	0.91[ASN][1000 genomes]
rs12506091	0.87[ASN][1000 genomes]
rs12641173	0.84[ASN][1000 genomes]
rs12642204	0.84[ASN][1000 genomes]
rs13106276	0.87[ASN][1000 genomes]
rs13119835	0.84[ASN][1000 genomes]
rs13123722	0.87[ASN][1000 genomes]
rs13149888	0.85[ASN][1000 genomes]
rs17593919	0.83[ASN][1000 genomes]
rs1916686	0.87[ASN][1000 genomes]
rs34165051	0.84[ASN][1000 genomes]
rs34548920	0.91[ASN][1000 genomes]
rs34826732	0.86[ASN][1000 genomes]
rs35235550	0.87[ASN][1000 genomes]
rs35433749	0.86[ASN][1000 genomes]
rs35760279	0.91[ASN][1000 genomes]
rs4240319	0.87[ASN][1000 genomes]
rs4240320	0.91[ASN][1000 genomes]
rs4318721	0.84[ASN][1000 genomes]
rs4544776	0.84[ASN][1000 genomes]
rs4833564	0.87[ASN][1000 genomes]
rs4833565	0.91[ASN][1000 genomes]
rs4834667	0.84[ASN][1000 genomes]
rs4834668	0.91[ASN][1000 genomes]
rs631623	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534084	0.84[ASN][1000 genomes]
rs6820367	0.85[ASN][1000 genomes]
rs7661325	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788657	0.82[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	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	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119186000-119187800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:119186000-119191200	Weak transcription	Dnd41	blood
3	chr4:119187000-119190000	Weak transcription	A549	lung
4	chr4:119187200-119188400	Weak transcription	Spleen	Spleen
5	chr4:119187200-119188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:119187200-119190200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119187200-119196400	Weak transcription	Liver	Liver
8	chr4:119187200-119199000	Weak transcription	Colonic Mucosa	Colon
9	chr4:119187200-119199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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