Variant report

Variant	rs1452770
Chromosome Location	chr2:50395850-50395851
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	chr2:50393318..50395919-chr2:50456799..50459520,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11125289	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125290	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11125291	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125292	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125294	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125296	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11900502	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12466807	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468151	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12468252	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12468282	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12468342	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12468396	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12478603	0.82[ASN][1000 genomes]
rs12613266	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12622844	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1452769	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1452771	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1517827	0.83[AMR][1000 genomes]
rs1584763	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17039900	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17039905	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17039932	0.86[AMR][1000 genomes]
rs17039940	0.86[AMR][1000 genomes]
rs17039947	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17039985	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17040064	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17040090	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17040138	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17040141	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17040147	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17040160	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17040169	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176872	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4971649	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4971652	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971653	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971654	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4971658	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4971659	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971661	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60500567	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6731397	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72878157	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72881242	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7607863	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50394000-50396000	Enhancers	Fetal Brain Female	brain
2	chr2:50395200-50396000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50395800-50396000	Enhancers	Fetal Brain Male	brain
4	chr2:50395800-50396800	Enhancers	Cortex derived primary cultured neurospheres	brain

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