Variant report

Variant	rs11731931
Chromosome Location	chr4:7957612-7957613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7948820..7951616-chr4:7956556..7958489,2	MCF-7	breast:
2	chr4:7939022..7943379-chr4:7955959..7960860,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10008860	0.84[EUR][1000 genomes]
rs11722433	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726359	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730568	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733842	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28850594	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55943378	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73214069	0.86[AMR][1000 genomes];0.95[EUR][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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv525135	chr4:7955488-7959029	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11731931	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7951400-7962200	Weak transcription	Small Intestine	intestine
2	chr4:7952000-7958000	Weak transcription	Stomach Mucosa	stomach
3	chr4:7956400-7958000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:7956600-7958000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:7957000-7958600	Enhancers	HMEC	breast
6	chr4:7957000-7958800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:7957000-7958800	Enhancers	Fetal Heart	heart
8	chr4:7957000-7959600	Enhancers	Fetal Intestine Small	intestine
9	chr4:7957000-7962000	Enhancers	Hela-S3	cervix
10	chr4:7957200-7958200	Enhancers	HepG2	liver
11	chr4:7957200-7958400	Enhancers	HUVEC	blood vessel
12	chr4:7957200-7958600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:7957200-7958600	Enhancers	Brain Substantia Nigra	brain
14	chr4:7957200-7958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:7957200-7961200	Enhancers	Fetal Intestine Large	intestine
16	chr4:7957400-7958600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7957400-7958600	Enhancers	NHEK	skin
18	chr4:7957400-7958600	Enhancers	Osteobl	bone
19	chr4:7957400-7959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:7957400-7959400	Enhancers	Placenta	Placenta
21	chr4:7957600-7958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:7957600-7958600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:7957600-7959000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:7957600-7959400	Enhancers	Fetal Muscle Leg	muscle

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