Variant report

Variant	rs57219566
Chromosome Location	chr7:50871569-50871570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50859492..50861313-chr7:50870995..50873527,2	K562	blood:
2	chr7:50859210..50863634-chr7:50868604..50872956,5	K562	blood:
3	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:
4	chr7:50864527..50866191-chr7:50870098..50872928,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes]
rs17450294	1.00[AFR][1000 genomes]
rs17547506	1.00[AFR][1000 genomes]
rs17547664	1.00[AFR][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4947462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947464	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947816	0.89[AMR][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947902	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73116823	1.00[AFR][1000 genomes]
rs73116829	1.00[AFR][1000 genomes]
rs73116888	1.00[AFR][1000 genomes]
rs73116890	1.00[AFR][1000 genomes]
rs73118808	1.00[AFR][1000 genomes]
rs73118814	1.00[AFR][1000 genomes]
rs73118816	1.00[AFR][1000 genomes]
rs73118830	1.00[AFR][1000 genomes]
rs73118836	1.00[AFR][1000 genomes]
rs73122773	1.00[AFR][1000 genomes]
rs73122790	1.00[AFR][1000 genomes]
rs73122793	1.00[AFR][1000 genomes]
rs73122798	1.00[AFR][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs757771	0.93[AMR][1000 genomes]
rs757998	0.89[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
3	chr7:50870200-50874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:50870200-50878000	Weak transcription	Spleen	Spleen
5	chr7:50870600-50876000	Enhancers	Hela-S3	cervix
6	chr7:50870800-50871600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:50871000-50871600	Flanking Active TSS	A549	lung
8	chr7:50871000-50872200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:50871000-50872200	Enhancers	HUVEC	blood vessel
10	chr7:50871000-50872200	Enhancers	Osteobl	bone
11	chr7:50871200-50871600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:50871200-50871600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:50871200-50871600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:50871200-50871600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:50871200-50872000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:50871200-50872200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:50871200-50872200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:50871200-50872200	Bivalent Enhancer	HMEC	breast
19	chr7:50871400-50871600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:50871400-50871600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:50871400-50871600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50871400-50871600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:50871400-50872200	Enhancers	NH-A	brain
24	chr7:50871400-50879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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