Variant report

Variant	rs73302759
Chromosome Location	chr10:50327452-50327453
allele	C/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	GATA3	chr10:50327161-50327607	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50321527..50324998-chr10:50325157..50328658,6	K562	blood:
2	chr10:50314500..50318570-chr10:50326499..50328270,3	K562	blood:
3	chr10:50322609..50324135-chr10:50326068..50328008,2	K562	blood:
4	chr10:50281055..50283973-chr10:50326395..50329291,2	K562	blood:

Variant related genes	Relation type
VSTM4	TF binding region
FAM170B-AS1	TF binding region
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10219080	0.91[AMR][1000 genomes]
rs11100991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243870	1.00[AMR][1000 genomes]
rs12258104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268209	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2246238	0.82[AMR][1000 genomes]
rs4442460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56737365	0.91[AMR][1000 genomes]
rs61167870	0.83[AFR][1000 genomes]
rs7067828	0.91[AMR][1000 genomes]
rs7067848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7068517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7068519	0.84[AFR][1000 genomes]
rs7077339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7083685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7095186	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302715	0.91[AMR][1000 genomes]
rs73302716	0.91[AMR][1000 genomes]
rs73304705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73304711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804303	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804328	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1818143	chr10:50323229-50332930	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv982875	chr10:50324703-50328326	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50323800-50327800	Weak transcription	NH-A	brain
2	chr10:50324000-50328200	Weak transcription	HSMMtube	muscle
3	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
4	chr10:50324200-50328400	Weak transcription	Fetal Stomach	stomach
5	chr10:50324800-50328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:50325000-50338600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:50325000-50339400	Weak transcription	Ovary	ovary
8	chr10:50325400-50328000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:50325800-50327800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:50326400-50327800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:50326800-50328800	Weak transcription	Thymus	Thymus
12	chr10:50327000-50328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:50327000-50328400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr10:50327200-50327600	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:50327200-50327600	Weak transcription	Fetal Thymus	thymus

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