Variant report

Variant	rs449547
Chromosome Location	chr21:37921971-37921972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37920478..37923222-chr21:37942423..37945220,2	MCF-7	breast:
2	chr21:37913355..37915070-chr21:37919819..37922038,2	K562	blood:
3	chr21:37915797..37918095-chr21:37920269..37922855,2	K562	blood:

Variant related genes	Relation type
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	0.84[EUR][1000 genomes]
rs1023368	0.84[EUR][1000 genomes]
rs11088353	0.83[EUR][1000 genomes]
rs11088354	0.83[EUR][1000 genomes]
rs11088359	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2000547	0.80[EUR][1000 genomes]
rs2835396	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs364698	0.98[ASN][1000 genomes]
rs364846	0.98[ASN][1000 genomes]
rs364916	0.99[ASN][1000 genomes]
rs365416	0.98[ASN][1000 genomes]
rs366381	0.98[ASN][1000 genomes]
rs367166	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs371189	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371945	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs372213	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs375572	0.98[ASN][1000 genomes]
rs375662	0.98[ASN][1000 genomes]
rs376218	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376590	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377160	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377284	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs377527	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs377574	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs382635	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs382937	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383609	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs387842	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs390432	0.99[ASN][1000 genomes]
rs393851	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394087	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394110	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394211	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394565	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs395383	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397691	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397990	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397996	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398591	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399522	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399711	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs400019	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400267	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400544	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404515	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs405901	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs407095	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs409231	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412775	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs413616	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs413852	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs414911	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415100	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415124	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415848	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416108	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs416875	0.99[ASN][1000 genomes]
rs417173	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs417191	0.99[ASN][1000 genomes]
rs419941	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs420925	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs425864	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs428948	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs429326	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431530	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs439888	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs440551	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs441734	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs443968	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445103	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447759	0.99[ASN][1000 genomes]
rs448014	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs448332	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs448482	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs448659	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs448687	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs448849	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs450183	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs451163	0.98[ASN][1000 genomes]
rs451243	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451370	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs451614	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs452072	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs452081	0.99[ASN][1000 genomes]
rs452107	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs452128	0.99[ASN][1000 genomes]
rs452583	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs453539	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928839	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9753924	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs97959	0.99[ASN][1000 genomes]
rs9978422	0.89[EUR][1000 genomes];0.89[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37915800-37922000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:37915800-37924800	Weak transcription	Right Atrium	heart
3	chr21:37916600-37922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:37919600-37922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:37920200-37923400	Weak transcription	Fetal Lung	lung
6	chr21:37920200-37923800	Weak transcription	Ovary	ovary
7	chr21:37920400-37922800	Weak transcription	Liver	Liver
8	chr21:37920600-37922400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:37920600-37923400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:37921000-37922000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr21:37921600-37922400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:37921600-37922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:37921800-37922200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:37921800-37922800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr21:37921800-37923000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr21:37921800-37923800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:37921800-37924000	Enhancers	H1 Cell Line	embryonic stem cell

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