Variant report

Variant	rs4817990
Chromosome Location	chr21:40493146-40493147
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
2	chr21:40422600..40424974-chr21:40491663..40494266,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11088464	0.98[EUR][1000 genomes]
rs11088465	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11702077	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11702158	0.94[ASN][1000 genomes]
rs2037922	0.93[EUR][1000 genomes]
rs2242947	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2242948	0.88[ASN][1000 genomes]
rs2836889	0.98[EUR][1000 genomes]
rs2836894	0.93[ASN][1000 genomes]
rs2836896	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836897	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836898	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836899	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836900	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836903	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2836904	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2836905	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2836906	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2836908	0.85[ASN][1000 genomes]
rs2836909	0.83[ASN][1000 genomes]
rs2836911	0.83[ASN][1000 genomes]
rs34912726	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34989336	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56147949	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62224879	0.88[ASN][1000 genomes]
rs7510385	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8131292	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8131570	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
3	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
4	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
5	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:40488200-40493400	Weak transcription	Lung	lung
7	chr21:40490800-40493400	Weak transcription	Spleen	Spleen
8	chr21:40491600-40494400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:40491800-40493600	Enhancers	Dnd41	blood
10	chr21:40492200-40493200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40492200-40493600	Weak transcription	Esophagus	oesophagus
12	chr21:40492200-40493600	Weak transcription	NH-A	brain
13	chr21:40492400-40493400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:40492600-40494200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr21:40492800-40493200	Enhancers	Fetal Heart	heart
16	chr21:40492800-40493200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:40492800-40494400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:40493000-40493200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:40493000-40493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr21:40493000-40493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40493000-40493800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:40493000-40494000	Enhancers	Psoas Muscle	Psoas
23	chr21:40493000-40494200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links