Variant report

Variant	rs11993427
Chromosome Location	chr8:65182472-65182473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10088452	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987907	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1440138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16930995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931002	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16931022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16931083	1.00[EUR][1000 genomes]
rs1866278	1.00[EUR][1000 genomes]
rs28636034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57769957	1.00[EUR][1000 genomes]
rs59279625	1.00[EUR][1000 genomes]
rs59357695	1.00[EUR][1000 genomes]
rs59921052	1.00[EUR][1000 genomes]
rs60185055	1.00[EUR][1000 genomes]
rs60388749	1.00[EUR][1000 genomes]
rs61083487	1.00[EUR][1000 genomes]
rs61119787	1.00[EUR][1000 genomes]
rs61287752	1.00[EUR][1000 genomes]
rs61599569	1.00[EUR][1000 genomes]
rs73244044	1.00[EUR][1000 genomes]
rs73244048	1.00[EUR][1000 genomes]
rs73244058	1.00[EUR][1000 genomes]
rs73244060	1.00[EUR][1000 genomes]
rs73244518	1.00[EUR][1000 genomes]
rs73244547	1.00[EUR][1000 genomes]
rs73244563	1.00[EUR][1000 genomes]
rs73244569	1.00[EUR][1000 genomes]
rs73244588	1.00[EUR][1000 genomes]
rs73244595	1.00[EUR][1000 genomes]
rs73244597	1.00[EUR][1000 genomes]
rs73246116	1.00[EUR][1000 genomes]
rs73246121	1.00[EUR][1000 genomes]
rs73246135	1.00[EUR][1000 genomes]
rs73246219	1.00[EUR][1000 genomes]
rs73246221	1.00[EUR][1000 genomes]
rs73246230	1.00[EUR][1000 genomes]
rs73246241	1.00[EUR][1000 genomes]
rs73246243	1.00[EUR][1000 genomes]
rs73246246	1.00[EUR][1000 genomes]
rs73246249	1.00[EUR][1000 genomes]
rs73246251	1.00[EUR][1000 genomes]
rs73246253	1.00[EUR][1000 genomes]
rs7821145	1.00[EUR][1000 genomes]
rs7821209	1.00[EUR][1000 genomes]
rs7842178	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv890971	chr8:65028814-65242166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65179000-65183400	Enhancers	Fetal Brain Male	brain
2	chr8:65179800-65182600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:65180000-65182600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:65181400-65182600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:65182400-65182600	Active TSS	Fetal Brain Female	brain
6	chr8:65182400-65183000	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr8:65182400-65183200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:65182400-65183200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:65182400-65183400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:65182400-65183400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:65182400-65183400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:65182400-65183600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:65182400-65183600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:65182400-65183800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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