Variant report

Variant	rs10283144
Chromosome Location	chr8:117889662-117889663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:117889589-117890317	Raji	blood:	n/a	n/a
2	RCOR1	chr8:117889570-117890228	K562	blood:	n/a	n/a
3	HCFC1	chr8:117889583-117889771	K562	blood:	n/a	n/a
4	EP300	chr8:117889533-117890846	K562	blood:	n/a	chr8:117890410-117890424 chr8:117890040-117890054 chr8:117889622-117889629
5	JUND	chr8:117889573-117890235	K562	blood:	n/a	n/a
6	ZNF384	chr8:117889617-117890330	K562	blood:	n/a	n/a
7	MAX	chr8:117889607-117890319	K562	blood:	n/a	chr8:117890042-117890051
8	KAP1	chr8:117889608-117890273	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117885681..117888687-chr8:117888823..117892545,5	K562	blood:
2	chr8:117783766..117785704-chr8:117889249..117891473,2	K562	blood:
3	chr8:117778445..117780504-chr8:117889619..117892569,2	K562	blood:
4	chr8:117889283..117892255-chr8:117894837..117897119,2	MCF-7	breast:
5	chr8:117882042..117883991-chr8:117888629..117890364,2	K562	blood:
6	chr8:117888535..117891194-chr8:117894187..117898380,4	K562	blood:

Variant related genes	Relation type
MIR3610	TF binding region
RAD21	TF binding region
ENSG00000164754	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes]
rs10283150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes]
rs12548895	1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2289937	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921758	0.84[AFR][1000 genomes]
rs2921771	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2921782	1.00[EUR][1000 genomes]
rs2921783	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020128	1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	1.00[EUR][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020135	1.00[EUR][1000 genomes]
rs3020138	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3020139	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3020181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55952416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes]
rs57202151	1.00[EUR][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs7820245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7831930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7836088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117887400-117890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:117887600-117890600	Weak transcription	NHLF	lung
3	chr8:117887600-117891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:117887800-117891000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:117889600-117890000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:117889600-117890000	Enhancers	Fetal Lung	lung
7	chr8:117889600-117890400	Enhancers	HepG2	liver
8	chr8:117889600-117890600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:117889600-117890600	Flanking Active TSS	Dnd41	blood
10	chr8:117889600-117891400	Enhancers	K562	blood
11	chr8:117889600-117891600	Enhancers	Hela-S3	cervix

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