Variant report

Variant	rs2100593
Chromosome Location	chr4:62375702-62375703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs335306	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335307	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335308	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335310	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335311	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335312	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335313	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335314	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335315	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335316	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335317	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335318	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335319	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs335321	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753138	chr4:62271444-62442507	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1005770	chr4:62344379-62398798	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv537109	chr4:62344379-62398798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62366800-62383000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:62373600-62377400	Weak transcription	HSMMtube	muscle
3	chr4:62373600-62385600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:62374600-62377400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:62374600-62379800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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