Variant report

Variant	rs56045103
Chromosome Location	chr10:50326407-50326408
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	GATA3	chr10:50326086-50326582	SH-SY5Y	brain:	n/a	chr10:50326543-50326550

No.	Distal block	Cell Line	Cell type
1	chr10:50321527..50324998-chr10:50325157..50328658,6	K562	blood:
2	chr10:50322609..50324135-chr10:50326068..50328008,2	K562	blood:
3	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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59909949	1.00[AMR][1000 genomes]
rs61733226	1.00[AMR][1000 genomes]
rs74130416	1.00[AMR][1000 genomes]
rs74130417	1.00[AMR][1000 genomes]
rs74130420	1.00[AMR][1000 genomes]
rs74130468	1.00[AMR][1000 genomes]
rs74130478	1.00[AMR][1000 genomes]
rs74130482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv1796109	chr10:50323229-50326725	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1802290	chr10:50323229-50326725	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	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
10	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50323800-50327800	Weak transcription	NH-A	brain
2	chr10:50324000-50327200	Enhancers	Fetal Thymus	thymus
3	chr10:50324000-50328200	Weak transcription	HSMMtube	muscle
4	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
5	chr10:50324200-50326600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:50324200-50328400	Weak transcription	Fetal Stomach	stomach
7	chr10:50324400-50327200	Enhancers	Fetal Muscle Leg	muscle
8	chr10:50324800-50328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:50325000-50338600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:50325000-50339400	Weak transcription	Ovary	ovary
11	chr10:50325400-50327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:50325400-50328000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:50325600-50327000	Enhancers	K562	blood
14	chr10:50325800-50327000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50325800-50327800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:50326200-50326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:50326200-50327000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:50326200-50327000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:50326400-50326800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:50326400-50327800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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