Variant report

Variant	rs9947830
Chromosome Location	chr18:13354219-13354220
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	chr18:13354202..13357838-chr18:13358559..13361053,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084046	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1107341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080646	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12456859	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12961452	0.85[ASN][1000 genomes]
rs1454128	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17681406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4602105	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6505807	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6505808	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7229983	0.91[EUR][1000 genomes]
rs7231366	0.91[EUR][1000 genomes]
rs7234675	0.81[ASN][1000 genomes]
rs7237577	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8092304	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs897035	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs981621	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9948620	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952836	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9957335	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9957621	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13351800-13374800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:13352400-13355000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr18:13352600-13354400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr18:13352800-13354400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr18:13353000-13354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:13353000-13355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:13353200-13354800	Enhancers	Fetal Thymus	thymus
8	chr18:13353200-13355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:13353200-13355000	Enhancers	Aorta	Aorta
10	chr18:13353600-13356000	Weak transcription	Liver	Liver
11	chr18:13353800-13354800	Weak transcription	Left Ventricle	heart
12	chr18:13353800-13355000	Enhancers	Dnd41	blood
13	chr18:13353800-13355400	Enhancers	Primary T cells from cord blood	blood
14	chr18:13353800-13355400	Weak transcription	Adipose Nuclei	Adipose
15	chr18:13353800-13359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:13353800-13359000	Weak transcription	Primary B cells from cord blood	blood
17	chr18:13353800-13359000	Weak transcription	Psoas Muscle	Psoas
18	chr18:13353800-13359200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:13353800-13359200	Weak transcription	Brain Anterior Caudate	brain
20	chr18:13353800-13361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr18:13353800-13361600	Weak transcription	Right Atrium	heart
22	chr18:13354200-13356000	Weak transcription	Thymus	Thymus
23	chr18:13354200-13357000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr18:13354200-13357400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr18:13354200-13371800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr18:13354200-13372000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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