Variant report

Variant	rs4638289
Chromosome Location	chr11:18285774-18285775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:18285547-18285932	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:18285547-18285944	GM12878	blood:	n/a	n/a
3	NFIC	chr11:18285593-18286015	GM12878	blood:	n/a	n/a
4	RUNX3	chr11:18285509-18285990	GM12878	blood:	n/a	n/a
5	ATF2	chr11:18285514-18285992	GM12878	blood:	n/a	n/a
6	IKZF1	chr11:18285656-18285959	GM12878	blood:	n/a	n/a
7	BATF	chr11:18285523-18285936	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18284620..18287566-chr11:18415998..18418094,2	K562	blood:
2	chr11:18283937..18286938-chr13:37573373..37575594,3	MCF-7	breast:

Variant related genes	Relation type
RNA5SP334	TF binding region
SAA1	TF binding region
ENSG00000120697	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10832913	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11024592	1.00[ASN][1000 genomes]
rs11024594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1829575	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993373	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2896522	0.81[ASN][1000 genomes]
rs4609582	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950019	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Amyloid A serum levels	21124955	GWAS catalog

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
2	chr11:18280400-18286200	Enhancers	HepG2	liver
3	chr11:18281400-18289400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:18282000-18286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:18283600-18291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:18283800-18286800	Weak transcription	Adipose Nuclei	Adipose
8	chr11:18284200-18285800	Enhancers	HSMMtube	muscle
9	chr11:18284600-18286200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:18285200-18285800	Flanking Active TSS	GM12878-XiMat	blood
11	chr11:18285200-18287800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:18285200-18289200	Weak transcription	Hela-S3	cervix
13	chr11:18285200-18291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:18285400-18300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:18285600-18285800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:18285600-18286000	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:18285600-18286800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:18285600-18286800	Weak transcription	Liver	Liver
20	chr11:18285600-18289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:18285600-18308400	Weak transcription	Gastric	stomach

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