Variant report

Variant	rs4580808
Chromosome Location	chr5:90190300-90190301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90189357..90192248-chr5:90675159..90676871,2	K562	blood:
2	chr5:90189989..90193986-chr5:90677446..90680190,4	K562	blood:
3	chr5:90185745..90188136-chr5:90190208..90193028,2	K562	blood:
4	chr5:90187538..90190531-chr5:90676122..90677820,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10035307	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10045202	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13155267	0.98[ASN][1000 genomes]
rs28368305	0.82[EUR][1000 genomes]
rs35381887	0.99[ASN][1000 genomes]
rs4244205	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4496735	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637585	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916831	0.82[EUR][1000 genomes]
rs58729412	0.80[ASN][1000 genomes]
rs60873835	0.90[ASN][1000 genomes]
rs62374012	0.99[ASN][1000 genomes]
rs6858917	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6868618	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889986	0.82[EUR][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	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
5	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
2	chr5:90179800-90191600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:90179800-90192000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:90183200-90192200	Weak transcription	Gastric	stomach
5	chr5:90185000-90226600	Weak transcription	K562	blood
6	chr5:90185200-90191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:90185400-90191200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:90186000-90191800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:90186200-90191000	Weak transcription	Liver	Liver
10	chr5:90186200-90191800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:90186600-90192200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:90186600-90193600	Weak transcription	Hela-S3	cervix
14	chr5:90186800-90191200	Weak transcription	HepG2	liver
15	chr5:90188600-90190400	Enhancers	Stomach Mucosa	stomach
16	chr5:90189600-90192600	Weak transcription	Fetal Brain Male	brain
17	chr5:90189800-90190400	Enhancers	A549	lung
18	chr5:90190200-90190600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:90190200-90191200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:90190200-90191400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:90190200-90191800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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