Variant report

Variant	rs12605622
Chromosome Location	chr18:8859038-8859039
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	chr18:8711921..8714570-chr18:8858809..8861022,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10502384	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798696	0.90[ASN][1000 genomes]
rs595612	0.85[AFR][1000 genomes]
rs619665	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs624756	0.93[ASN][1000 genomes]
rs624855	0.93[ASN][1000 genomes]
rs625719	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs632355	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642510	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs644181	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs645951	0.85[ASN][1000 genomes]
rs670578	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs673730	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689956	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690206	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690237	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs690517	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs690570	0.86[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8854800-8859200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:8855400-8860200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr18:8856600-8860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:8856800-8861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:8857000-8859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:8857800-8859600	Enhancers	HMEC	breast
7	chr18:8858800-8859800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:8858800-8859800	Enhancers	A549	lung
9	chr18:8858800-8860000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:8859000-8859400	Enhancers	K562	blood
11	chr18:8859000-8859600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:8859000-8859600	Enhancers	NH-A	brain
13	chr18:8859000-8859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:8859000-8859800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:8859000-8859800	Enhancers	Hela-S3	cervix
16	chr18:8859000-8859800	Enhancers	NHLF	lung
17	chr18:8859000-8859800	Enhancers	Osteobl	bone
18	chr18:8859000-8860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:8859000-8860000	Enhancers	NHDF-Ad	bronchial
20	chr18:8859000-8861200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8859000-8861800	Enhancers	Placenta	Placenta
22	chr18:8859000-8861800	Enhancers	NHEK	skin
23	chr18:8859000-8862000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:8859000-8862000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr18:8859000-8862200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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