Variant report

Variant	rs7923716
Chromosome Location	chr10:50822226-50822227
allele	G/T
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	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:
2	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:

Variant related genes	Relation type
CHAT	TF binding region
ENSG00000187714	Chromatin interaction

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

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

rs_ID	r²[population]
rs1880677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838535	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr10:50818400-50822400	Bivalent Enhancer	Fetal Brain Male	brain
2	chr10:50819400-50823000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr10:50820200-50822400	Weak transcription	Right Atrium	heart
4	chr10:50821000-50822400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:50821200-50822800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr10:50821400-50822800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr10:50821400-50822800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:50821600-50822600	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr10:50821600-50822800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:50821600-50824000	Bivalent/Poised TSS	Placenta	Placenta
11	chr10:50821800-50822800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr10:50821800-50823000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr10:50822000-50822400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr10:50822000-50822400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:50822000-50822600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:50822200-50822400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:50822200-50822400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:50822200-50822600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr10:50822200-50822800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr10:50822200-50823000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr10:50822200-50823200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:50822200-50823600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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