Variant report

Variant	rs73179340
Chromosome Location	chr5:90144347-90144348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6872705	1.00[AMR][1000 genomes]
rs715668	1.00[AMR][1000 genomes]
rs73175296	1.00[AMR][1000 genomes]
rs73175300	1.00[AMR][1000 genomes]
rs73177408	1.00[AMR][1000 genomes]
rs73177413	1.00[AMR][1000 genomes]
rs73177422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177427	1.00[AMR][1000 genomes]
rs73179309	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179321	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179343	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179344	1.00[AMR][1000 genomes]
rs73179354	1.00[AMR][1000 genomes]
rs73181318	1.00[AMR][1000 genomes]
rs73181321	1.00[AMR][1000 genomes]
rs73181323	1.00[AMR][1000 genomes]
rs73181330	1.00[AMR][1000 genomes]
rs7737712	1.00[AMR][1000 genomes]
rs949788	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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90110200-90149600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:90112000-90151200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:90112000-90160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
5	chr5:90127200-90144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:90137000-90145400	Weak transcription	K562	blood
7	chr5:90137200-90144600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:90137400-90148800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:90137600-90144600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:90138000-90144400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:90138000-90146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:90138000-90148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:90142400-90145200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:90142400-90149600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:90142400-90156200	Weak transcription	Fetal Brain Male	brain
16	chr5:90142600-90162400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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