Variant report

Variant	rs73375648
Chromosome Location	chr7:39600592-39600593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58449224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60952857	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6967238	0.86[AFR][1000 genomes]
rs73372707	1.00[AMR][1000 genomes]
rs73372724	1.00[AMR][1000 genomes]
rs73372737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73373891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375641	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7778148	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39597200-39605200	Weak transcription	Fetal Brain Male	brain
2	chr7:39597600-39604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:39598200-39605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:39599200-39601600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:39600000-39601000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:39600000-39601200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:39600000-39601400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:39600000-39601400	Enhancers	Fetal Intestine Large	intestine
9	chr7:39600200-39601200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:39600400-39600800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:39600400-39601000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:39600400-39601000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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