Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90239703..90242534-chr5:90244285..90246060,2	MCF-7	breast:
2	chr5:90242754..90246158-chr5:90247864..90250143,3	K562	blood:
3	chr5:90236183..90238569-chr5:90244503..90246881,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12109698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55908755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55914710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57830245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931656	0.84[AFR][1000 genomes]
rs58577202	0.84[AFR][1000 genomes]
rs58617853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58790039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58911687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59167728	1.00[EUR][1000 genomes]
rs60125173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60564653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6888277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771112	1.00[EUR][1000 genomes]
rs73771116	1.00[EUR][1000 genomes]
rs73771125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771164	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90237400-90246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:90237600-90245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:90242600-90261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:90244000-90245600	Enhancers	Fetal Intestine Small	intestine
8	chr5:90244800-90245600	Enhancers	Stomach Mucosa	stomach
9	chr5:90245000-90246200	Enhancers	Fetal Intestine Large	intestine
10	chr5:90245200-90245600	Flanking Active TSS	HepG2	liver
11	chr5:90245200-90246000	Enhancers	Liver	Liver
12	chr5:90245400-90245600	Flanking Active TSS	A549	lung
13	chr5:90245400-90246000	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:90245400-90246400	Enhancers	Rectal Mucosa Donor 29	rectum

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