Variant report

Variant	rs11700443
Chromosome Location	chr21:39858210-39858211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13052107	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2212930	0.86[YRI][hapmap]
rs2836420	0.93[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2836439	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836444	0.88[CEU][hapmap]
rs35568883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71316645	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9982370	0.94[CEU][hapmap];0.83[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
4	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
5	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:39855400-39860800	Enhancers	NHEK	skin
7	chr21:39856400-39859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:39856400-39862200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr21:39856600-39858800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr21:39856800-39858600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:39856800-39858600	Enhancers	HUVEC	blood vessel
12	chr21:39856800-39858800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:39857000-39860200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:39857000-39860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:39857400-39858600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:39857600-39860600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr21:39857600-39861800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:39857800-39860800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:39857800-39860800	Enhancers	HMEC	breast
20	chr21:39858000-39858600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr21:39858000-39859000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:39858000-39860000	Enhancers	Left Ventricle	heart
23	chr21:39858000-39860200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:39858000-39860200	Enhancers	Aorta	Aorta
25	chr21:39858000-39860200	Enhancers	Lung	lung
26	chr21:39858000-39862400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr21:39858000-39864000	Enhancers	Fetal Heart	heart
28	chr21:39858200-39858400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:39858200-39858400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:39858200-39858400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:39858200-39858400	Enhancers	Gastric	stomach
32	chr21:39858200-39858400	Enhancers	Right Ventricle	heart
33	chr21:39858200-39858400	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr21:39858200-39858600	Enhancers	Hela-S3	cervix
35	chr21:39858200-39858800	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr21:39858200-39858800	Enhancers	Placenta	Placenta
37	chr21:39858200-39859000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:39858200-39859000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:39858200-39859000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr21:39858200-39859000	Enhancers	NH-A	brain
41	chr21:39858200-39859000	Enhancers	Osteobl	bone
42	chr21:39858200-39859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:39858200-39860000	Enhancers	Right Atrium	heart
44	chr21:39858200-39860800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:39858200-39861000	Enhancers	Esophagus	oesophagus
46	chr21:39858200-39861400	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links