Variant report

Variant	rs11780409
Chromosome Location	chr8:99349014-99349015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99348991..99351548-chr8:99381372..99383684,2	MCF-7	breast:
2	chr8:99347365..99349416-chr8:99356232..99359153,2	K562	blood:
3	chr8:99344736..99347953-chr8:99348247..99350606,3	K562	blood:
4	chr5:31736992..31739495-chr8:99347589..99350230,2	MCF-7	breast:
5	chr8:99302112..99311881-chr8:99336694..99356691,43	MCF-7	breast:
6	chr8:99304023..99311791-chr8:99340525..99354206,27	MCF-7	breast:
7	chr8:99348334..99350137-chr8:99356726..99359108,2	MCF-7	breast:
8	chr8:99341826..99344018-chr8:99347525..99349610,2	K562	blood:
9	chr8:99181890..99183854-chr8:99347309..99350010,2	MCF-7	breast:
10	chr8:99344129..99347953-chr8:99347984..99350606,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249114	Chromatin interaction
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096079	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955165	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774385	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775325	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775839	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777508	0.89[EUR][1000 genomes]
rs11782450	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783294	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784029	1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785622	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787268	1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288913	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17289367	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360909	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812318	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524219	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524220	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524223	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987554	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664861	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99341800-99349200	Weak transcription	NHLF	lung
2	chr8:99344400-99354200	Enhancers	NHDF-Ad	bronchial
3	chr8:99345200-99349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:99345200-99350200	Weak transcription	Adipose Nuclei	Adipose
5	chr8:99345600-99349200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:99348000-99351000	Enhancers	HSMMtube	muscle
7	chr8:99348200-99351000	Enhancers	HSMM	muscle
8	chr8:99348200-99354600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:99348400-99352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:99348600-99350600	Weak transcription	Ovary	ovary
11	chr8:99348600-99351000	Enhancers	Osteobl	bone
12	chr8:99348600-99351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:99348600-99355200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:99348800-99351400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:99348800-99352000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:99349000-99350400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:99349000-99351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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