Variant report

Variant	rs61085980
Chromosome Location	chr21:40032140-40032141
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	chr21:40030626..40032570-chr21:40036833..40038338,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11088437	0.83[EUR][1000 genomes]
rs11701577	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11702165	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2212606	0.93[EUR][1000 genomes]
rs2836597	0.96[EUR][1000 genomes]
rs2836598	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2836602	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2836610	0.92[EUR][1000 genomes]
rs2836615	0.91[EUR][1000 genomes]
rs2836621	0.83[EUR][1000 genomes]
rs4143428	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4514962	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs464980	0.81[EUR][1000 genomes]
rs55955614	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58120977	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62217513	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62217517	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62217518	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62217519	0.94[EUR][1000 genomes]
rs764482	0.90[EUR][1000 genomes]
rs8130434	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8132069	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991816	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	esv3398749	chr21:40030382-40034780	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3440316	chr21:40031607-40034455	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40029800-40034600	Active TSS	Aorta	Aorta
3	chr21:40031200-40034400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40031400-40033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:40031800-40032200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:40031800-40032200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr21:40031800-40032400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40031800-40033000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr21:40031800-40033200	Bivalent/Poised TSS	Osteobl	bone
10	chr21:40031800-40033600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr21:40031800-40034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr21:40031800-40034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr21:40031800-40034000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr21:40031800-40034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr21:40032000-40032200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr21:40032000-40032200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:40032000-40032200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:40032000-40032200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:40032000-40032200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
20	chr21:40032000-40032200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr21:40032000-40032200	Enhancers	Esophagus	oesophagus
22	chr21:40032000-40032200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr21:40032000-40032200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr21:40032000-40032200	Enhancers	Lung	lung
25	chr21:40032000-40032200	Bivalent Enhancer	Right Ventricle	heart
26	chr21:40032000-40032400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:40032000-40032400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr21:40032000-40032400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr21:40032000-40032400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr21:40032000-40032600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:40032000-40032600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:40032000-40032800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:40032000-40032800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr21:40032000-40032800	Bivalent Enhancer	Placenta	Placenta
35	chr21:40032000-40032800	Bivalent Enhancer	Fetal Thymus	thymus
36	chr21:40032000-40033200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
37	chr21:40032000-40033200	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr21:40032000-40033600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:40032000-40033800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr21:40032000-40033800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr21:40032000-40033800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr21:40032000-40034000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr21:40032000-40034000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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