Variant report

Variant	rs6114735
Chromosome Location	chr20:24445155-24445156
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	PAX5	chr20:24444854-24445170	GM12878	blood:	n/a	chr20:24445064-24445083 chr20:24445063-24445081 chr20:24445065-24445082 chr20:24445072-24445081

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24420874..24424389-chr20:24442088..24445319,3	MCF-7	breast:

Variant related genes	Relation type
SYNDIG1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1326302	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326303	0.86[EUR][1000 genomes]
rs16986641	0.87[EUR][1000 genomes]
rs57281014	0.87[EUR][1000 genomes]
rs6114734	0.87[EUR][1000 genomes]
rs722602	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr20:24439600-24449200	Weak transcription	Gastric	stomach
2	chr20:24439800-24449800	Weak transcription	Right Atrium	heart
3	chr20:24441800-24446600	Enhancers	Brain Substantia Nigra	brain
4	chr20:24442000-24446000	Enhancers	Brain Germinal Matrix	brain
5	chr20:24442000-24446400	Enhancers	Brain Hippocampus Middle	brain
6	chr20:24442000-24446800	Enhancers	Fetal Muscle Leg	muscle
7	chr20:24442000-24447200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr20:24442000-24447400	Enhancers	Brain Anterior Caudate	brain
9	chr20:24442000-24447400	Enhancers	Brain Cingulate Gyrus	brain
10	chr20:24442200-24445400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:24442400-24447200	Enhancers	Brain Angular Gyrus	brain
12	chr20:24443400-24448200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:24443600-24446400	Weak transcription	Fetal Brain Female	brain
14	chr20:24444400-24445200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:24444400-24445200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:24444400-24449400	Weak transcription	Right Ventricle	heart
17	chr20:24444600-24445600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:24444600-24446600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:24444800-24446200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr20:24444800-24447000	Enhancers	Fetal Brain Male	brain
21	chr20:24445000-24445600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr20:24445000-24447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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