Variant report

Variant	rs2212931
Chromosome Location	chr21:39859190-39859191
allele	A/G
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:13)

rs_ID	r²[population]
rs1015022	0.92[ASN][1000 genomes]
rs11910637	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836426	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2836443	0.96[ASN][1000 genomes]
rs2836445	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2836458	0.85[ASN][1000 genomes]
rs2836466	0.83[ASN][1000 genomes]
rs2836469	0.83[ASN][1000 genomes]
rs2836472	0.82[ASN][1000 genomes]
rs2836473	0.81[ASN][1000 genomes]
rs3827204	0.83[ASN][1000 genomes]
rs6517468	0.81[EUR][1000 genomes]
rs9305650	0.91[ASN][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	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
2	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:39855400-39860800	Enhancers	NHEK	skin
4	chr21:39856400-39859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:39856400-39862200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr21:39857000-39860200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:39857000-39860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:39857600-39860600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:39857600-39861800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:39857800-39860800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:39857800-39860800	Enhancers	HMEC	breast
12	chr21:39858000-39860000	Enhancers	Left Ventricle	heart
13	chr21:39858000-39860200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:39858000-39860200	Enhancers	Aorta	Aorta
15	chr21:39858000-39860200	Enhancers	Lung	lung
16	chr21:39858000-39862400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:39858000-39864000	Enhancers	Fetal Heart	heart
18	chr21:39858200-39859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:39858200-39860000	Enhancers	Right Atrium	heart
20	chr21:39858200-39860800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:39858200-39861000	Enhancers	Esophagus	oesophagus
22	chr21:39858200-39861400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr21:39858400-39859400	Weak transcription	Right Ventricle	heart
24	chr21:39858400-39860000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:39858400-39860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:39858400-39862000	Enhancers	Stomach Mucosa	stomach
27	chr21:39858600-39859600	Enhancers	Fetal Muscle Leg	muscle
28	chr21:39858600-39859800	Weak transcription	Gastric	stomach
29	chr21:39858600-39860000	Weak transcription	Hela-S3	cervix
30	chr21:39858600-39860400	Genic enhancers	Primary hematopoietic stem cells	blood
31	chr21:39858800-39859200	Enhancers	Fetal Lung	lung
32	chr21:39858800-39859600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:39858800-39861200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr21:39858800-39861400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr21:39858800-39862800	Enhancers	Adipose Nuclei	Adipose
36	chr21:39859000-39859400	Enhancers	HUVEC	blood vessel
37	chr21:39859000-39859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:39859000-39859800	Weak transcription	Fetal Thymus	thymus
39	chr21:39859000-39860200	Weak transcription	NH-A	brain
40	chr21:39859000-39860600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:39859000-39860600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr21:39859000-39862400	Weak transcription	Fetal Muscle Trunk	muscle

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