Variant report

Variant	rs17570760
Chromosome Location	chr5:90264117-90264118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11744148	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11744249	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522571	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57218688	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6875416	1.00[GIH][hapmap];0.90[MKK][hapmap];0.83[AMR][1000 genomes]
rs73185169	0.91[AFR][1000 genomes];0.87[AMR][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	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	nsv462247	chr5:90249900-90298632	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598928	chr5:90249900-90298632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv598929	chr5:90258584-90302117	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598930	chr5:90258584-90303764	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598931	chr5:90258584-90307152	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90253000-90265200	Weak transcription	Fetal Brain Female	brain
3	chr5:90257800-90264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:90260000-90265000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:90260200-90264400	Enhancers	Hela-S3	cervix
6	chr5:90260800-90264400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:90261400-90264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:90262200-90265200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:90262400-90265200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:90262800-90266200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr5:90262800-90267400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:90263200-90264200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:90263200-90265400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:90263400-90264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:90263400-90264600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:90263600-90264200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:90263600-90264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:90263800-90266000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr5:90264000-90264400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:90264000-90264600	Enhancers	HUVEC	blood vessel

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