Variant report

Variant	rs4916840
Chromosome Location	chr5:90313045-90313046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90312914..90314737-chr5:90316544..90319036,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10038122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10454910	0.83[ASN][1000 genomes]
rs12652491	0.84[ASN][1000 genomes]
rs12657388	0.82[ASN][1000 genomes]
rs12658697	0.84[ASN][1000 genomes]
rs13152882	0.86[ASN][1000 genomes]
rs1848481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848483	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848484	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976565	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367185	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2662281	0.81[EUR][1000 genomes]
rs2697547	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4386756	0.84[ASN][1000 genomes]
rs4391205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4916839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6452928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689544	0.81[EUR][1000 genomes]
rs951948	0.86[ASN][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	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90294400-90313200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:90308600-90318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:90308800-90316000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90309600-90313400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:90309800-90323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90311600-90313400	Enhancers	Liver	Liver
7	chr5:90312200-90313600	Enhancers	Small Intestine	intestine
8	chr5:90312200-90313600	Enhancers	Hela-S3	cervix
9	chr5:90312400-90313400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90312400-90313600	Enhancers	Fetal Intestine Large	intestine
11	chr5:90312600-90313400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:90312600-90313400	Enhancers	NHEK	skin
13	chr5:90312600-90314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:90312600-90314000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:90312800-90313200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:90312800-90313200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:90312800-90313400	Active TSS	NHDF-Ad	bronchial
18	chr5:90312800-90313600	Enhancers	Rectal Smooth Muscle	rectum
19	chr5:90312800-90314000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:90312800-90314400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:90312800-90315000	Enhancers	Fetal Intestine Small	intestine
22	chr5:90313000-90313200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:90313000-90313400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr5:90313000-90313400	Active TSS	A549	lung
25	chr5:90313000-90313800	Enhancers	Stomach Mucosa	stomach
26	chr5:90313000-90314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:90313000-90314800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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