Variant report

Variant	rs8099254
Chromosome Location	chr18:12909037-12909038
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	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:
2	chr18:12882774..12886006-chr18:12907131..12909300,4	K562	blood:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction
ENSG00000267336	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs34021839	0.93[AFR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73416989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12904400-12911200	Weak transcription	Spleen	Spleen
2	chr18:12904600-12910000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12906200-12909200	Enhancers	Fetal Thymus	thymus
4	chr18:12906800-12911000	Weak transcription	Right Ventricle	heart
5	chr18:12907000-12911000	Weak transcription	Gastric	stomach
6	chr18:12907400-12911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12907400-12911200	Weak transcription	Lung	lung
8	chr18:12907600-12909200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:12908200-12909200	Enhancers	Osteobl	bone
11	chr18:12908200-12911000	Weak transcription	Right Atrium	heart
12	chr18:12908400-12911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:12908400-12911200	Weak transcription	Ovary	ovary
14	chr18:12908800-12911000	Weak transcription	Left Ventricle	heart
15	chr18:12909000-12909200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:12909000-12910200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:12909000-12911000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:12909000-12911200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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