Variant report

Variant	rs62215996
Chromosome Location	chr21:28318748-28318749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10482979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11700721	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13047132	0.93[EUR][1000 genomes]
rs13047248	0.94[EUR][1000 genomes]
rs13048083	0.94[EUR][1000 genomes]
rs13051983	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1444269	0.95[EUR][1000 genomes]
rs149415	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017616	0.94[EUR][1000 genomes]
rs2830578	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2830590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2830591	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3171407	0.95[EUR][1000 genomes]
rs34609314	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197958	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36125779	0.94[EUR][1000 genomes]
rs3746836	0.95[EUR][1000 genomes]
rs7283958	0.94[EUR][1000 genomes]
rs965135	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28305800-28319200	Weak transcription	Placenta	Placenta
3	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
4	chr21:28307600-28324800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
6	chr21:28313600-28319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:28314800-28320800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:28315200-28321000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr21:28315600-28320400	Strong transcription	Osteobl	bone
10	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:28317200-28319600	Genic enhancers	HSMM	muscle
12	chr21:28317600-28321600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:28317800-28320200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr21:28318000-28319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:28318000-28319600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr21:28318000-28319800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr21:28318000-28319800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:28318000-28320400	Enhancers	Adipose Nuclei	Adipose
19	chr21:28318000-28321000	Genic enhancers	HSMMtube	muscle
20	chr21:28318200-28318800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:28318200-28318800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr21:28318200-28318800	Active TSS	Brain Anterior Caudate	brain
23	chr21:28318200-28318800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:28318200-28318800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr21:28318200-28319000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr21:28318200-28319000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr21:28318200-28319400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr21:28318200-28319400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:28318200-28319400	Enhancers	Brain Germinal Matrix	brain
30	chr21:28318200-28319400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr21:28318200-28319600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr21:28318200-28319600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr21:28318200-28319600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr21:28318200-28319600	Genic enhancers	Fetal Kidney	kidney
35	chr21:28318200-28319600	Enhancers	Fetal Lung	lung
36	chr21:28318200-28319600	Enhancers	Fetal Muscle Leg	muscle
37	chr21:28318200-28319800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr21:28318200-28319800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr21:28318200-28320000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:28318200-28320000	Enhancers	Fetal Stomach	stomach
41	chr21:28318200-28320200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:28318200-28320200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr21:28318200-28320800	Enhancers	Ovary	ovary
44	chr21:28318400-28318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:28318400-28318800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr21:28318400-28318800	Active TSS	Brain Substantia Nigra	brain
47	chr21:28318400-28319200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:28318400-28319200	Active TSS	Stomach Smooth Muscle	stomach
49	chr21:28318400-28319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:28318400-28319400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links