Variant report

Variant	rs431704
Chromosome Location	chr21:40493660-40493661
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40493420..40495416-chr21:40496679..40498868,2	K562	blood:
2	chr21:40493195..40496194-chr21:40496462..40499562,3	K562	blood:
3	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
4	chr21:40422600..40424974-chr21:40491663..40494266,2	K562	blood:

Variant related genes	Relation type
ENSG00000228861	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1013129	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810384	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882777	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142112	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373728	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375073	0.83[ASN][1000 genomes]
rs431284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431376	0.81[EUR][1000 genomes]
rs442916	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs454902	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7283826	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128678	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941385	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974464	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:21 , 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	chr21:40491600-40494400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:40492600-40494200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr21:40492800-40494400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr21:40493000-40493800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:40493000-40494000	Enhancers	Psoas Muscle	Psoas
11	chr21:40493000-40494200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:40493200-40496200	Weak transcription	Fetal Heart	heart
13	chr21:40493200-40496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:40493200-40496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:40493400-40493800	Enhancers	Lung	lung
16	chr21:40493400-40494000	ZNF genes & repeats	Spleen	Spleen
17	chr21:40493400-40494200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:40493400-40494400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:40493400-40497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:40493600-40494200	Enhancers	Esophagus	oesophagus
21	chr21:40493600-40494400	Flanking Active TSS	Dnd41	blood

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