Variant report

Variant	rs6114194
Chromosome Location	chr20:23589386-23589387
allele	C/G
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	MAX	chr20:23588842-23589453	HepG2	liver:	n/a	n/a
2	BHLHE40	chr20:23589024-23589448	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23330189..23333651-chr20:23586751..23589419,5	MCF-7	breast:
2	chr20:23587750..23589396-chr20:23593301..23594908,2	MCF-7	breast:

Variant related genes	Relation type
CST9	TF binding region
ENSG00000234832	Chromatin interaction
ENSG00000132661	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1966182	0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2405390	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2405391	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs56326647	0.86[EUR][1000 genomes]
rs57526954	1.00[EUR][1000 genomes]
rs6048913	1.00[CEU][hapmap]
rs6048959	1.00[CEU][hapmap]
rs60569976	1.00[EUR][1000 genomes]
rs6106686	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6114187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6114188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6114193	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6515370	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73902104	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23586600-23590000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:23587200-23590400	Enhancers	Brain Anterior Caudate	brain
5	chr20:23587800-23589800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr20:23587800-23589800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:23587800-23590400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr20:23587800-23594000	Weak transcription	Colon Smooth Muscle	Colon
9	chr20:23588200-23593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr20:23588600-23590400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:23588600-23590400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:23588800-23590600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:23589000-23589400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr20:23589000-23589400	Flanking Active TSS	HepG2	liver
16	chr20:23589000-23590600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr20:23589000-23590600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:23589000-23590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr20:23589200-23589400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:23589200-23590000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:23589200-23590000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:23589200-23590000	Enhancers	Brain Hippocampus Middle	brain

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