Variant report

Variant	rs7836366
Chromosome Location	chr8:10585683-10585684
allele	A/G
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	RFX5	chr8:10585622-10585717	K562	blood:	n/a	n/a
2	STAT3	chr8:10585636-10585707	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:10585330-10588586	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000248896	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10098699	0.84[CEU][hapmap]
rs10100209	0.91[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10100333	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10481451	0.84[CEU][hapmap]
rs11250077	0.84[CEU][hapmap]
rs12542888	0.88[CEU][hapmap]
rs12676417	0.84[CEU][hapmap]
rs2116095	0.83[CEU][hapmap]
rs2277130	0.83[CEU][hapmap]
rs2409669	0.84[CEU][hapmap]
rs4504595	0.82[CEU][hapmap]
rs4840516	0.88[CEU][hapmap]
rs4841434	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841436	0.85[EUR][1000 genomes]
rs4841437	0.85[EUR][1000 genomes]
rs4841452	0.82[CEU][hapmap]
rs6601512	0.88[EUR][1000 genomes]
rs6601513	0.85[EUR][1000 genomes]
rs6601523	0.84[CEU][hapmap]
rs6601529	0.84[CEU][hapmap]
rs6980805	0.84[CEU][hapmap]
rs6991641	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6995692	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996056	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7002282	0.84[CEU][hapmap]
rs7005905	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7007318	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018288	0.85[ASN][1000 genomes]
rs7814757	0.84[CEU][hapmap]
rs9969626	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7836366	FLJ10661	cis	cerebellum	SCAN
rs7836366	DEFB136	cis	parietal	SCAN
rs7836366	TDH	cis	cerebellum	SCAN
rs7836366	PPP1R3B	cis	cerebellum	SCAN
rs7836366	CLDN23	cis	multi-tissue	Pritchard
rs7836366	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7836366	C8orf13	cis	multi-tissue	Pritchard
rs7836366	PRSS55	cis	cerebellum	SCAN
rs7836366	MFHAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10577000-10586000	Weak transcription	Right Atrium	heart
3	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
4	chr8:10580600-10586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10583400-10586000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
6	chr8:10583800-10586000	Weak transcription	Liver	Liver
7	chr8:10583800-10586000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
8	chr8:10584000-10586400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
9	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:10584800-10585800	Genic enhancers	NHEK	skin
11	chr8:10585000-10586000	Enhancers	Spleen	Spleen
12	chr8:10585000-10587000	Active TSS	Lung	lung
13	chr8:10585200-10585800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:10585200-10585800	Enhancers	HMEC	breast
15	chr8:10585200-10586000	Enhancers	Esophagus	oesophagus
16	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
17	chr8:10585400-10586800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:10585400-10586800	Active TSS	Adipose Nuclei	Adipose
19	chr8:10585400-10587000	Bivalent/Poised TSS	Placenta	Placenta
20	chr8:10585400-10587000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
22	chr8:10585600-10586200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:10585600-10586200	Flanking Active TSS	Hela-S3	cervix
24	chr8:10585600-10586400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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