Variant report

Variant	rs8123716
Chromosome Location	chr20:25062715-25062716
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	SUZ12	chr20:25061549-25065864	NT2-D1	testis:	n/a	n/a
2	SIN3A	chr20:25062705-25062922	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr20:25062546-25062952	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
VSX1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6050281	0.82[EUR][1000 genomes]
rs6050291	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25061600-25064600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr20:25061800-25062800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25061800-25062800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr20:25061800-25062800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr20:25061800-25062800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr20:25061800-25062800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr20:25061800-25062800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:25061800-25062800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr20:25061800-25062800	Enhancers	Gastric	stomach
10	chr20:25061800-25062800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr20:25061800-25062800	Flanking Bivalent TSS/Enh	Thymus	Thymus
12	chr20:25061800-25063000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr20:25061800-25063000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:25061800-25063000	Bivalent Enhancer	Spleen	Spleen
15	chr20:25061800-25063400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr20:25061800-25063800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr20:25061800-25064000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr20:25061800-25064000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr20:25061800-25065800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr20:25061800-25065800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr20:25061800-25065800	Enhancers	Pancreas	Pancrea
22	chr20:25062000-25062800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr20:25062000-25062800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr20:25062000-25062800	Bivalent Enhancer	Placenta	Placenta
25	chr20:25062200-25062800	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr20:25062400-25062800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr20:25062400-25062800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:25062400-25063800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:25062400-25064000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr20:25062400-25064200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr20:25062600-25062800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr20:25062600-25062800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr20:25062600-25062800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr20:25062600-25062800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr20:25062600-25062800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr20:25062600-25062800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr20:25062600-25062800	Bivalent Enhancer	Right Ventricle	heart
38	chr20:25062600-25063000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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