Variant report

Variant	rs690490
Chromosome Location	chr18:8837082-8837083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs595612	0.80[AFR][1000 genomes]
rs599678	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs631841	0.90[EUR][1000 genomes]
rs646828	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650038	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670578	0.80[AFR][1000 genomes]
rs671680	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs689975	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs690076	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690311	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs690517	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs690570	0.80[AFR][1000 genomes];0.81[AMR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
4	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
5	chr18:8829200-8839000	Weak transcription	Gastric	stomach
6	chr18:8832800-8841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:8835600-8839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8835800-8837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:8835800-8844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:8836000-8839000	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:8836000-8839200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:8836000-8841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:8836200-8839000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:8836200-8841600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:8836600-8839000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:8836600-8839000	Weak transcription	HSMMtube	muscle
17	chr18:8837000-8837200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr18:8837000-8837400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr18:8837000-8838600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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