Variant report

Variant	rs16869220
Chromosome Location	chr5:90214739-90214740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10080224	1.00[ASN][1000 genomes]
rs16868998	1.00[EUR][1000 genomes]
rs16869002	1.00[EUR][1000 genomes]
rs16869055	1.00[EUR][1000 genomes]
rs16869104	1.00[EUR][1000 genomes]
rs16869223	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869224	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869260	1.00[EUR][1000 genomes]
rs16869348	1.00[EUR][1000 genomes]
rs16869357	1.00[EUR][1000 genomes]
rs1876632	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61145978	1.00[EUR][1000 genomes]
rs949788	1.00[ASN][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	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	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
3	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
4	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 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	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90205000-90225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90205200-90217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:90205200-90219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:90208600-90217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90211400-90217600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:90211600-90225000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:90211600-90225000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:90212000-90215000	Enhancers	Liver	Liver
12	chr5:90213000-90215200	Enhancers	Hela-S3	cervix
13	chr5:90213200-90215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:90213200-90215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:90213200-90216000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:90214200-90214800	Weak transcription	Fetal Kidney	kidney

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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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