Variant report

Variant	rs2836519
Chromosome Location	chr21:39939152-39939153
allele	A/G
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: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11088435	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11088436	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11701672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12482035	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482036	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482155	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12482179	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12482226	0.93[ASN][1000 genomes]
rs12483176	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12483195	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16996463	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2212601	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2212602	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2226682	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836498	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836499	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836500	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836501	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836502	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836503	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836504	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836506	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836507	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836508	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836509	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836510	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836511	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836514	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836515	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836517	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28536009	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28562445	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3787917	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56080396	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62219616	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62219639	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8128002	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8128006	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8129056	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8129400	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8130048	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8130830	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8132394	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132408	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8133498	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9977835	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9977841	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978050	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978197	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978706	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9980821	0.92[EUR][1000 genomes];0.94[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:41 , 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	chr21:39938800-39939200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:39938800-39939200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:39938800-39939200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:39938800-39939400	Enhancers	Fetal Muscle Leg	muscle
10	chr21:39938800-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr21:39938800-39939600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr21:39938800-39939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr21:39938800-39939600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:39938800-39940000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr21:39938800-39940200	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr21:39939000-39939200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:39939000-39939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:39939000-39939200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr21:39939000-39939200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr21:39939000-39939200	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr21:39939000-39939200	Bivalent Enhancer	Psoas Muscle	Psoas
22	chr21:39939000-39939400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:39939000-39939400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:39939000-39939400	Bivalent Enhancer	Fetal Lung	lung
25	chr21:39939000-39939400	Enhancers	Ovary	ovary
26	chr21:39939000-39939400	Enhancers	Rectal Smooth Muscle	rectum
27	chr21:39939000-39939400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr21:39939000-39939400	Bivalent Enhancer	A549	lung
29	chr21:39939000-39939400	Bivalent Enhancer	Osteobl	bone
30	chr21:39939000-39939600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:39939000-39939600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:39939000-39939600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:39939000-39939600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr21:39939000-39939800	Active TSS	Adipose Nuclei	Adipose
37	chr21:39939000-39939800	Enhancers	Pancreas	Pancrea
38	chr21:39939000-39940000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:39939000-39940000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr21:39939000-39940000	Bivalent/Poised TSS	HSMM	muscle
41	chr21:39939000-39940000	Bivalent/Poised TSS	HSMMtube	muscle

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