Variant report

Variant	rs60410697
Chromosome Location	chr8:10572617-10572618
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	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:

Variant related genes	Relation type
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10090558	0.94[ASN][1000 genomes]
rs10094968	0.87[ASN][1000 genomes]
rs10097577	0.87[ASN][1000 genomes]
rs10098956	0.93[ASN][1000 genomes]
rs10099100	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10103202	0.94[ASN][1000 genomes]
rs10107820	0.87[ASN][1000 genomes]
rs10110723	0.88[ASN][1000 genomes]
rs1139066	0.88[ASN][1000 genomes]
rs1139843	0.88[ASN][1000 genomes]
rs11784335	0.88[ASN][1000 genomes]
rs11990311	0.87[ASN][1000 genomes]
rs12680711	0.87[ASN][1000 genomes]
rs28488675	0.81[ASN][1000 genomes]
rs28548758	0.94[ASN][1000 genomes]
rs58772184	0.88[ASN][1000 genomes]
rs59276210	0.93[ASN][1000 genomes]
rs60270701	1.00[ASN][1000 genomes]
rs60672851	0.93[ASN][1000 genomes]
rs60837490	0.94[ASN][1000 genomes]
rs6601505	0.93[ASN][1000 genomes]
rs6601507	0.93[ASN][1000 genomes]
rs6601508	0.93[ASN][1000 genomes]
rs7002378	0.80[ASN][1000 genomes]
rs7003456	0.80[ASN][1000 genomes]
rs7006325	0.87[ASN][1000 genomes]
rs73530796	0.87[ASN][1000 genomes]
rs73532605	0.87[ASN][1000 genomes]
rs73532619	0.93[ASN][1000 genomes]
rs73532620	0.93[ASN][1000 genomes]
rs73532622	0.93[ASN][1000 genomes]
rs73536579	1.00[ASN][1000 genomes]
rs73541440	0.80[ASN][1000 genomes]
rs73541442	0.80[ASN][1000 genomes]
rs73541445	0.80[ASN][1000 genomes]
rs73541496	0.81[ASN][1000 genomes]
rs7820334	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822666	1.00[ASN][1000 genomes]
rs7828426	0.87[ASN][1000 genomes]
rs7844805	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10568800-10573400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:10569000-10573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:10569600-10573400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:10570400-10573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:10570800-10573200	Weak transcription	K562	blood
7	chr8:10570800-10575800	Enhancers	Lung	lung
8	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:10571400-10573200	Enhancers	Hela-S3	cervix
10	chr8:10571400-10573400	Bivalent Enhancer	Right Ventricle	heart
11	chr8:10571800-10574000	Enhancers	Spleen	Spleen
12	chr8:10572000-10573000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10572000-10573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:10572000-10583000	Weak transcription	Liver	Liver
15	chr8:10572200-10573400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr8:10572200-10575400	Enhancers	HUVEC	blood vessel
17	chr8:10572400-10572800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr8:10572400-10573200	Enhancers	Fetal Muscle Leg	muscle
19	chr8:10572400-10574200	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr8:10572600-10573000	Weak transcription	Esophagus	oesophagus
21	chr8:10572600-10573400	Enhancers	Right Atrium	heart
22	chr8:10572600-10574200	Enhancers	NHEK	skin
23	chr8:10572600-10574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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