Variant report

Variant	rs690517
Chromosome Location	chr18:8847930-8847931
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	chr18:8846698..8849745-chr18:8854648..8857686,3	K562	blood:
2	chr18:8837663..8839556-chr18:8847545..8849387,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10502384	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12605622	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs595612	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599678	0.82[EUR][1000 genomes]
rs625719	0.81[EUR][1000 genomes]
rs632355	0.81[EUR][1000 genomes]
rs642510	0.89[AFR][1000 genomes]
rs646828	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs650038	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs670578	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671680	0.81[EUR][1000 genomes]
rs673730	0.81[EUR][1000 genomes]
rs689956	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs689975	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs690076	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs690206	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs690237	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs690490	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs690518	0.89[ASN][1000 genomes]
rs690570	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8843200-8849800	Weak transcription	NHLF	lung
2	chr18:8845200-8849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8845200-8856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:8845600-8856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:8845800-8849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:8846600-8848000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr18:8846600-8848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:8846600-8850200	Enhancers	NHDF-Ad	bronchial
9	chr18:8846800-8848800	Enhancers	Left Ventricle	heart
10	chr18:8847200-8848000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:8847200-8848000	Enhancers	Right Atrium	heart
12	chr18:8847200-8848200	Enhancers	Psoas Muscle	Psoas
13	chr18:8847200-8849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:8847200-8849000	Enhancers	Stomach Smooth Muscle	stomach
15	chr18:8847200-8849200	Enhancers	Rectal Smooth Muscle	rectum
16	chr18:8847200-8849200	Enhancers	Osteobl	bone
17	chr18:8847400-8848000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:8847400-8848000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr18:8847400-8848000	Enhancers	Right Ventricle	heart
20	chr18:8847400-8848200	Enhancers	Adipose Nuclei	Adipose
21	chr18:8847400-8848200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr18:8847400-8849200	Enhancers	Colon Smooth Muscle	Colon
23	chr18:8847600-8848200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:8847800-8848000	Enhancers	Fetal Muscle Leg	muscle

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