Variant report

Variant	rs642278
Chromosome Location	chr11:86237443-86237444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86013660..86015868-chr11:86235501..86237829,2	K562	blood:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1841066	0.95[ASN][1000 genomes]
rs2446228	0.86[ASN][1000 genomes]
rs2446229	0.91[ASN][1000 genomes]
rs2446231	0.93[ASN][1000 genomes]
rs2511090	0.94[ASN][1000 genomes]
rs36043971	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs498981	0.95[ASN][1000 genomes]
rs501362	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs502749	0.95[ASN][1000 genomes]
rs503583	0.82[ASN][1000 genomes]
rs509870	0.83[ASN][1000 genomes]
rs511884	0.83[ASN][1000 genomes]
rs525764	0.87[ASN][1000 genomes]
rs531908	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs535652	0.83[ASN][1000 genomes]
rs553351	0.91[ASN][1000 genomes]
rs582976	0.83[ASN][1000 genomes]
rs585527	0.80[ASN][1000 genomes]
rs588287	0.84[ASN][1000 genomes]
rs589368	0.83[ASN][1000 genomes]
rs593853	0.91[ASN][1000 genomes]
rs594106	0.82[ASN][1000 genomes]
rs596056	0.83[ASN][1000 genomes]
rs597296	0.82[ASN][1000 genomes]
rs597793	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598187	0.80[ASN][1000 genomes]
rs601824	0.93[ASN][1000 genomes]
rs603890	0.82[ASN][1000 genomes]
rs605618	0.83[ASN][1000 genomes]
rs608180	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609848	0.93[ASN][1000 genomes]
rs610842	0.86[ASN][1000 genomes]
rs612163	0.82[ASN][1000 genomes]
rs613412	0.93[ASN][1000 genomes]
rs616018	0.95[ASN][1000 genomes]
rs61904415	0.83[ASN][1000 genomes]
rs619195	0.83[ASN][1000 genomes]
rs619472	0.89[ASN][1000 genomes]
rs623478	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624236	0.93[ASN][1000 genomes]
rs624843	0.86[ASN][1000 genomes]
rs624870	0.81[ASN][1000 genomes]
rs625925	0.94[ASN][1000 genomes]
rs628406	0.83[ASN][1000 genomes]
rs628449	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs630438	0.86[ASN][1000 genomes]
rs635934	0.94[ASN][1000 genomes]
rs636485	0.82[ASN][1000 genomes]
rs638041	0.82[ASN][1000 genomes]
rs640310	0.82[ASN][1000 genomes]
rs643950	0.81[ASN][1000 genomes]
rs644086	0.85[ASN][1000 genomes]
rs646691	0.94[ASN][1000 genomes]
rs646798	0.82[ASN][1000 genomes]
rs648798	0.83[ASN][1000 genomes]
rs653779	0.82[ASN][1000 genomes]
rs655868	0.81[ASN][1000 genomes]
rs655934	0.92[ASN][1000 genomes]
rs658166	0.93[ASN][1000 genomes]
rs659405	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs661083	0.82[ASN][1000 genomes]
rs661972	0.82[ASN][1000 genomes]
rs668270	0.82[ASN][1000 genomes]
rs670602	0.86[ASN][1000 genomes]
rs674250	0.82[ASN][1000 genomes]
rs679382	0.94[ASN][1000 genomes]
rs680846	0.83[ASN][1000 genomes]
rs681158	0.82[ASN][1000 genomes]
rs687804	0.92[ASN][1000 genomes]
rs689039	0.80[ASN][1000 genomes]
rs694952	0.94[ASN][1000 genomes]
rs7130920	0.82[ASN][1000 genomes]
rs9645702	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528182	chr11:86234604-86259006	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
2	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
3	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
5	chr11:86235600-86238000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:86236000-86259000	Weak transcription	Ovary	ovary
7	chr11:86236200-86237600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86236200-86238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86236200-86238600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:86236200-86258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:86236400-86240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:86236600-86237800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:86236600-86237800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr11:86236800-86243800	Weak transcription	HUVEC	blood vessel
15	chr11:86236800-86244000	Weak transcription	A549	lung
16	chr11:86237000-86237800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:86237200-86237800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:86237200-86238000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr11:86237400-86237600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:86237400-86237600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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