Variant report

Variant	rs9808818
Chromosome Location	chr21:39939359-39939360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39927283..39929950-chr21:39938124..39940095,2	MCF-7	breast:
2	chr21:39932487..39936262-chr21:39938528..39942043,3	MCF-7	breast:
3	chr21:39938475..39940465-chr21:39941181..39943748,2	MCF-7	breast:
4	chr21:39936720..39939586-chr21:39955260..39957011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157554	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10483047	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12329687	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836491	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836493	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836496	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836505	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2836522	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28477632	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28479390	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4816598	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9975915	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9978340	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9979462	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9980455	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9981003	0.84[EUR][1000 genomes];0.91[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	esv2751930	chr21:39917180-39956061	Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39929000-39946800	Weak transcription	Aorta	Aorta
2	chr21:39932200-39940600	Weak transcription	Gastric	stomach
3	chr21:39938600-39940000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr21:39938600-39940000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr21:39938600-39940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr21:39938800-39939400	Enhancers	Fetal Muscle Leg	muscle
7	chr21:39938800-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:39938800-39939600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:39938800-39939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr21:39938800-39939600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:39938800-39940000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr21:39938800-39940200	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr21:39939000-39939400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:39939000-39939400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:39939000-39939400	Bivalent Enhancer	Fetal Lung	lung
16	chr21:39939000-39939400	Enhancers	Ovary	ovary
17	chr21:39939000-39939400	Enhancers	Rectal Smooth Muscle	rectum
18	chr21:39939000-39939400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr21:39939000-39939400	Bivalent Enhancer	A549	lung
20	chr21:39939000-39939400	Bivalent Enhancer	Osteobl	bone
21	chr21:39939000-39939600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr21:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:39939000-39939600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:39939000-39939600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:39939000-39939600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr21:39939000-39939800	Active TSS	Adipose Nuclei	Adipose
28	chr21:39939000-39939800	Enhancers	Pancreas	Pancrea
29	chr21:39939000-39940000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:39939000-39940000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr21:39939000-39940000	Bivalent/Poised TSS	HSMM	muscle
32	chr21:39939000-39940000	Bivalent/Poised TSS	HSMMtube	muscle
33	chr21:39939200-39939400	Enhancers	Fetal Stomach	stomach
34	chr21:39939200-39939400	Active TSS	NH-A	brain
35	chr21:39939200-39939600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:39939200-39939600	Active TSS	Fetal Muscle Trunk	muscle
37	chr21:39939200-39939800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:39939200-39939800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr21:39939200-39940000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:39939200-39940000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:39939200-39940000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:39939200-39940000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
43	chr21:39939200-39940000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr21:39939200-39940000	Enhancers	Psoas Muscle	Psoas

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