Variant report

Variant	rs186803
Chromosome Location	chr5:177016095-177016096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:177015422-177016104	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr5:177015313-177016101	K562	blood:	n/a	n/a
3	FOXA1	chr5:177015428-177016108	HepG2	liver:	n/a	n/a
4	FOXA2	chr5:177015380-177016292	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176933337..176935861-chr5:177015983..177018322,2	K562	blood:
2	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
3	chr5:176977384..176979109-chr5:177015440..177017120,2	K562	blood:
4	chr5:177013361..177016176-chr5:177017373..177019237,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11490750	0.82[ASN][1000 genomes]
rs168080	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs168081	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1843633	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046511	0.95[ASN][1000 genomes]
rs234375	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28375402	0.80[ASN][1000 genomes]
rs28403900	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28461466	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28496282	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs337340	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337361	0.91[ASN][1000 genomes]
rs337364	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs337365	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs430797	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446709	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs186803	TMED9	Cis_1M	lymphoblastoid	RTeQTL
rs186803	TMED9	cis	Esophagus Muscularis	GTEx
rs186803	TMED9	cis	Skin Sun Exposed Lower leg	GTEx
rs186803	B4GALT7	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177014200-177018600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:177015400-177016200	Enhancers	Stomach Mucosa	stomach
3	chr5:177015800-177016200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:177016000-177016800	Enhancers	HepG2	liver
5	chr5:177016000-177018400	Weak transcription	K562	blood

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