Variant report

Variant	rs55949471
Chromosome Location	chr8:35540448-35540449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55939700	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56131202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216087	0.83[AMR][1000 genomes]
rs56298617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56385636	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57959385	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58638685	1.00[AMR][1000 genomes]
rs59056946	0.85[AMR][1000 genomes]
rs59087360	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59352631	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60148169	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60257165	0.80[AFR][1000 genomes]
rs61113752	0.83[AMR][1000 genomes]
rs61506285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583060	0.85[AMR][1000 genomes]
rs73584827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584829	0.85[AMR][1000 genomes]
rs73584830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584868	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584872	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584880	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73671916	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674086	0.83[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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35530200-35562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:35530400-35541800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:35531000-35579600	Weak transcription	Fetal Brain Female	brain
4	chr8:35533200-35542200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:35534800-35548000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:35537000-35542000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:35538000-35575200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:35538400-35542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:35538400-35543800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:35538600-35540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:35538600-35541600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:35538600-35544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:35539400-35541200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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