Variant report

Variant	rs73422396
Chromosome Location	chr7:108364239-108364240
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	POLR2A	chr7:108363707-108364419	H1-neurons	neurons:	n/a	n/a
2	GATA2	chr7:108363691-108364308	SH-SY5Y	brain:	n/a	chr7:108363707-108363716 chr7:108363704-108363720 chr7:108363709-108363716 chr7:108363698-108363715 chr7:108363709-108363716 chr7:108363707-108363717 chr7:108363707-108363716 chr7:108363706-108363718 chr7:108363709-108363716
3	ZNF263	chr7:108363900-108364256	HEK293-T-REx	kidney:	n/a	n/a
4	POLR2A	chr7:108363727-108365133	H1-neurons	neurons:	n/a	n/a
5	REST	chr7:108363590-108364869	H1-neurons	neurons:	n/a	chr7:108363862-108363882
6	REST	chr7:108363505-108365112	H1-neurons	neurons:	n/a	chr7:108363862-108363882

Variant related genes	Relation type
ENSG00000270425	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10241807	1.00[AMR][1000 genomes]
rs10251373	1.00[AMR][1000 genomes]
rs10257081	1.00[AMR][1000 genomes]
rs55667297	1.00[AMR][1000 genomes]
rs56862868	1.00[AMR][1000 genomes]
rs57973513	1.00[AMR][1000 genomes]
rs58360929	1.00[AMR][1000 genomes]
rs58388107	1.00[AMR][1000 genomes]
rs58941051	1.00[AMR][1000 genomes]
rs59149625	1.00[AMR][1000 genomes]
rs59529271	1.00[AMR][1000 genomes]
rs73412667	1.00[AMR][1000 genomes]
rs73414413	1.00[AMR][1000 genomes]
rs73414414	1.00[AMR][1000 genomes]
rs73414423	1.00[AMR][1000 genomes]
rs73414428	1.00[AMR][1000 genomes]
rs73414430	1.00[AMR][1000 genomes]
rs73414432	1.00[AMR][1000 genomes]
rs73414438	1.00[AMR][1000 genomes]
rs73414440	1.00[AMR][1000 genomes]
rs73414443	1.00[AMR][1000 genomes]
rs73414445	1.00[AMR][1000 genomes]
rs73416413	1.00[AMR][1000 genomes]
rs73416415	1.00[AMR][1000 genomes]
rs73416419	1.00[AMR][1000 genomes]
rs73416423	1.00[AMR][1000 genomes]
rs73416424	1.00[AMR][1000 genomes]
rs73416429	1.00[AMR][1000 genomes]
rs73416436	1.00[AMR][1000 genomes]
rs73416438	1.00[AMR][1000 genomes]
rs73416447	1.00[AMR][1000 genomes]
rs73416457	1.00[AMR][1000 genomes]
rs73416458	1.00[AMR][1000 genomes]
rs73416464	1.00[AMR][1000 genomes]
rs73418344	1.00[AMR][1000 genomes]
rs73418346	1.00[AMR][1000 genomes]
rs73418637	1.00[AMR][1000 genomes]
rs73418638	1.00[AMR][1000 genomes]
rs73418688	1.00[AMR][1000 genomes]
rs73418699	1.00[AMR][1000 genomes]
rs73420509	1.00[AMR][1000 genomes]
rs73420516	1.00[AMR][1000 genomes]
rs73420566	1.00[AMR][1000 genomes]
rs73420568	1.00[AMR][1000 genomes]
rs73422359	1.00[AMR][1000 genomes]
rs73422361	1.00[AMR][1000 genomes]
rs73422373	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422378	0.89[AFR][1000 genomes];1.00[AMR][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	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023651	chr7:108303048-108385180	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1031096	chr7:108334543-108596014	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888944	chr7:108348785-108433790	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv981780	chr7:108352758-108409711	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108363200-108364400	Enhancers	Brain Germinal Matrix	brain
2	chr7:108363200-108366200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:108363600-108365000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:108363800-108364400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:108363800-108364600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:108363800-108365000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:108364000-108364400	Enhancers	HSMMtube	muscle
8	chr7:108364000-108365800	Enhancers	Fetal Lung	lung
9	chr7:108364000-108365800	Enhancers	Fetal Muscle Leg	muscle
10	chr7:108364000-108366000	Enhancers	Cortex derived primary cultured neurospheres	brain

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