Variant report

Variant	rs2520468
Chromosome Location	chr7:112058604-112058605
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	chr7:112054145..112057717-chr7:112058317..112061377,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1015417	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1557698	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2396537	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520469	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520472	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520478	0.89[ASN][1000 genomes]
rs2520479	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520481	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2520483	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523036	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523043	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708591	0.87[ASN][1000 genomes]
rs2708593	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708599	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36113101	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6977129	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs727807	0.82[ASN][1000 genomes]
rs728273	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9640740	0.96[ASN][1000 genomes]
rs991632	0.99[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
3	chr7:112051800-112059800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:112052800-112059800	Weak transcription	HepG2	liver
7	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:112054000-112059800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:112055400-112060400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:112056000-112060400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:112056400-112059800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:112056400-112060200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:112056400-112061800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:112056400-112061800	Weak transcription	Thymus	Thymus
15	chr7:112056600-112060400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:112056600-112061800	Weak transcription	Fetal Thymus	thymus
17	chr7:112056800-112060200	Weak transcription	Osteobl	bone
18	chr7:112056800-112060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:112056800-112062400	Weak transcription	HUVEC	blood vessel
20	chr7:112057000-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:112057200-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:112057400-112061200	Weak transcription	Dnd41	blood
23	chr7:112058400-112059800	Weak transcription	Esophagus	oesophagus

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