Variant report

Variant	rs6114195
Chromosome Location	chr20:23590058-23590059
allele	A/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	SPI1	chr20:23589701-23590116	HL-60	blood:	n/a	chr20:23589896-23589909 chr20:23589898-23589907 chr20:23589899-23589906

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23419497..23422715-chr20:23589979..23593117,3	MCF-7	breast:

Variant related genes	Relation type
CST9	TF binding region
ENSG00000125823	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6106684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6106688	1.00[YRI][hapmap]
rs6114197	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6114212	1.00[AMR][1000 genomes]
rs6114216	1.00[YRI][hapmap];1.00[AMR][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	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:23587200-23590400	Enhancers	Brain Anterior Caudate	brain
4	chr20:23587800-23590400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr20:23587800-23594000	Weak transcription	Colon Smooth Muscle	Colon
6	chr20:23588200-23593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:23588600-23590400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:23588600-23590400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:23588800-23590600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:23589000-23590600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr20:23589000-23590600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:23589000-23590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:23589400-23590400	Enhancers	HepG2	liver
15	chr20:23589800-23590600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:23589800-23590600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr20:23589800-23590600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr20:23589800-23590600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:23589800-23590800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr20:23590000-23590800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:23590000-23591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:23590000-23594000	Weak transcription	Brain Hippocampus Middle	brain

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