Variant report

Variant	rs3923477
Chromosome Location	chr4:56599963-56599964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56571957..56574091-chr4:56598749..56600551,2	K562	blood:
2	chr4:56407880..56411154-chr4:56599779..56601718,3	K562	blood:
3	chr4:56496445..56498419-chr4:56599941..56602001,2	K562	blood:
4	chr4:56593845..56596121-chr4:56598605..56600878,2	K562	blood:

Variant related genes	Relation type
ENSG00000109255	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11133412	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11721916	0.88[ASN][1000 genomes]
rs12505860	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12507786	0.86[ASN][1000 genomes]
rs12512418	0.91[ASN][1000 genomes]
rs12650611	0.87[ASN][1000 genomes]
rs13107874	0.80[ASN][1000 genomes]
rs13120644	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13137899	0.84[ASN][1000 genomes]
rs13138083	0.84[ASN][1000 genomes]
rs13141064	0.91[ASN][1000 genomes]
rs13144782	0.91[ASN][1000 genomes]
rs28759770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35271890	0.84[ASN][1000 genomes]
rs4129570	0.85[ASN][1000 genomes]
rs4129571	0.85[ASN][1000 genomes]
rs4241997	0.91[ASN][1000 genomes]
rs4386659	0.91[ASN][1000 genomes]
rs4487423	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56794069	0.91[ASN][1000 genomes]
rs58173988	0.89[ASN][1000 genomes]
rs59976415	0.85[ASN][1000 genomes]
rs73238308	0.89[ASN][1000 genomes]
rs7669025	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3923477	KIAA1211	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56595000-56601200	Enhancers	Stomach Mucosa	stomach
2	chr4:56599000-56600000	Enhancers	Fetal Intestine Large	intestine
3	chr4:56599200-56601000	Enhancers	HMEC	breast
4	chr4:56599600-56600400	Flanking Active TSS	K562	blood
5	chr4:56599600-56600600	Enhancers	Hela-S3	cervix
6	chr4:56599600-56600600	Enhancers	NHEK	skin
7	chr4:56599600-56600800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:56599600-56600800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:56599600-56601000	Enhancers	Fetal Intestine Small	intestine
10	chr4:56599800-56600600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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