Variant report

Variant	rs7009920
Chromosome Location	chr8:10585162-10585163
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	chr8:10583182..10585584-chr8:10585920..10587606,2	K562	blood:

Variant related genes	Relation type
ENSG00000248896	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10503409	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap]
rs10503410	0.85[CEU][hapmap]
rs11776368	1.00[CHD][hapmap]
rs11998382	0.81[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs12155811	0.90[CEU][hapmap]
rs12156345	1.00[CHD][hapmap]
rs12375394	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs12750	0.95[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs17718772	0.85[CEU][hapmap]
rs17720365	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs17721089	0.85[CEU][hapmap]
rs17774331	0.90[CEU][hapmap]
rs17774398	0.90[CEU][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs17774627	0.90[CEU][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs17776404	0.85[CEU][hapmap]
rs17776427	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs17776497	0.89[CEU][hapmap]
rs17776622	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs17776946	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs2409654	1.00[CHD][hapmap]
rs2409655	1.00[CHD][hapmap]
rs4240671	1.00[CHD][hapmap]
rs4310166	1.00[CHD][hapmap]
rs4326350	1.00[CHD][hapmap]
rs4841458	1.00[CHD][hapmap]
rs60167323	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7002336	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73200724	0.91[EUR][1000 genomes]
rs7817252	0.82[CEU][hapmap]
rs7825147	0.91[EUR][1000 genomes]
rs7827270	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7838335	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs891558	0.95[CEU][hapmap]
rs891559	0.95[CEU][hapmap]
rs9650658	0.90[CEU][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs9650659	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7009920	DEFB136	cis	parietal	SCAN
rs7009920	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:21 , 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	chr8:10580600-10585200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10580600-10586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10583200-10585400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:10583400-10586000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
8	chr8:10583800-10586000	Weak transcription	Liver	Liver
9	chr8:10583800-10586000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
10	chr8:10584000-10585400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:10584000-10586400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr8:10584200-10585400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:10584200-10585400	Genic enhancers	Hela-S3	cervix
14	chr8:10584400-10585200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:10584400-10585200	Weak transcription	Esophagus	oesophagus
16	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr8:10584600-10585200	Weak transcription	HMEC	breast
18	chr8:10584800-10585400	Bivalent/Poised TSS	Right Ventricle	heart
19	chr8:10584800-10585800	Genic enhancers	NHEK	skin
20	chr8:10585000-10586000	Enhancers	Spleen	Spleen
21	chr8:10585000-10587000	Active TSS	Lung	lung

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