Variant report

Variant	rs441734
Chromosome Location	chr21:37919964-37919965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:37919741-37920036	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37913355..37915070-chr21:37919819..37922038,2	K562	blood:

Variant related genes	Relation type
CLDN14	TF binding region
ENSG00000159261	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1023150	0.83[EUR][1000 genomes]
rs1023368	0.83[EUR][1000 genomes]
rs11088353	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11088354	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11088359	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2000547	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2835396	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs364698	0.98[ASN][1000 genomes]
rs364846	0.98[ASN][1000 genomes]
rs364916	0.98[ASN][1000 genomes]
rs365416	0.98[ASN][1000 genomes]
rs366381	0.98[ASN][1000 genomes]
rs367166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371189	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs371945	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs372213	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs375572	0.98[ASN][1000 genomes]
rs375662	0.98[ASN][1000 genomes]
rs376218	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs376590	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377160	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs377284	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs377527	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs377574	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs382635	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs382937	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383609	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs387842	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs390432	0.98[ASN][1000 genomes]
rs393851	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394087	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394110	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394211	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394565	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395383	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397691	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs397990	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397996	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs398591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399522	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs400267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs400544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs404515	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs405901	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs407095	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs409231	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs412775	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs413616	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs413852	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs414911	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs415100	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs415124	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs415848	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs416108	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs416875	0.98[ASN][1000 genomes]
rs417173	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs417191	0.98[ASN][1000 genomes]
rs419941	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs420925	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425864	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs428948	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs429326	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs431530	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs439888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440551	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs443968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs445103	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs447759	0.98[ASN][1000 genomes]
rs448014	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs448332	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs448482	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs448659	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs448687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs448849	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs449547	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs450183	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451163	0.97[ASN][1000 genomes]
rs451243	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs451370	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451614	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452072	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs452081	0.98[ASN][1000 genomes]
rs452107	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452128	0.98[ASN][1000 genomes]
rs452583	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs453539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs928839	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9753924	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs97959	0.98[ASN][1000 genomes]
rs9978422	0.88[EUR][1000 genomes];0.88[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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37915200-37921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37915600-37921600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:37915800-37922000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:37915800-37924800	Weak transcription	Right Atrium	heart
5	chr21:37916600-37920200	Enhancers	Fetal Lung	lung
6	chr21:37916600-37922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:37917600-37921800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:37919600-37922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:37919800-37920200	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links