Variant report

Variant	rs2438336
Chromosome Location	chr5:90150228-90150229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90146306..90149323-chr5:90149920..90152363,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11959536	1.00[EUR][1000 genomes]
rs12109166	1.00[EUR][1000 genomes]
rs16869067	1.00[AMR][1000 genomes]
rs16869083	1.00[AMR][1000 genomes]
rs16869171	1.00[AMR][1000 genomes]
rs2438340	0.83[AFR][1000 genomes]
rs2438341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2438346	1.00[EUR][1000 genomes]
rs2438354	1.00[AMR][1000 genomes]
rs2438358	1.00[AMR][1000 genomes]
rs2438381	1.00[AMR][1000 genomes]
rs2443070	1.00[AMR][1000 genomes]
rs2443074	1.00[AMR][1000 genomes]
rs2443075	1.00[AMR][1000 genomes]
rs2443088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2443090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460168	1.00[AMR][1000 genomes]
rs2460169	1.00[AMR][1000 genomes]
rs2460170	1.00[AMR][1000 genomes]
rs2460172	1.00[AMR][1000 genomes]
rs3113635	1.00[AMR][1000 genomes]
rs4916693	1.00[EUR][1000 genomes]
rs6878024	1.00[EUR][1000 genomes]
rs6890981	1.00[AMR][1000 genomes]
rs73179344	1.00[EUR][1000 genomes]
rs7738012	1.00[EUR][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	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
3	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
4	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90112000-90151200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:90112000-90160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
4	chr5:90142400-90156200	Weak transcription	Fetal Brain Male	brain
5	chr5:90142600-90162400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:90145200-90153400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:90145600-90153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:90146800-90152600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:90148200-90171400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90148400-90155200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:90148400-90164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:90148600-90150400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:90148600-90152000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:90149400-90150400	Strong transcription	K562	blood
15	chr5:90149400-90151800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:90149400-90152000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:90149600-90150400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:90149600-90151600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:90149600-90151800	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:90149800-90150600	Enhancers	HUVEC	blood vessel
21	chr5:90150000-90150600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:90150000-90151400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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