Variant report

Variant	rs4947462
Chromosome Location	chr7:50872947-50872948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50872247..50874643-chr7:50886564..50888421,2	K562	blood:
2	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
3	chr7:50871845..50874817-chr7:50875745..50879437,4	K562	blood:
4	chr7:50859492..50861313-chr7:50870995..50873527,2	K562	blood:
5	chr7:50859210..50863634-chr7:50868604..50872956,5	K562	blood:
6	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12530497	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12538863	0.89[AMR][1000 genomes]
rs17548938	0.89[AMR][1000 genomes]
rs2286155	0.93[AMR][1000 genomes]
rs41430449	0.84[AMR][1000 genomes]
rs4245558	0.89[AMR][1000 genomes]
rs4947463	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	0.93[AMR][1000 genomes]
rs4947834	0.93[AMR][1000 genomes]
rs4947844	0.93[AMR][1000 genomes]
rs4947854	0.93[AMR][1000 genomes]
rs4947864	0.88[AMR][1000 genomes]
rs4947887	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	0.89[AMR][1000 genomes]
rs57219566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58092690	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60210111	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61618565	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113830	0.89[AMR][1000 genomes]
rs73113855	0.93[AMR][1000 genomes]
rs73113860	0.93[AMR][1000 genomes]
rs73113863	0.93[AMR][1000 genomes]
rs73124711	0.89[AMR][1000 genomes]
rs73124720	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:20 , 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	chr7:50871400-50879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:50871600-50874800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:50871600-50876000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:50871600-50879800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:50871800-50874200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:50872200-50873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:50872200-50873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:50872200-50873200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50872200-50873200	Weak transcription	HUVEC	blood vessel
15	chr7:50872200-50873600	Weak transcription	Osteobl	bone
16	chr7:50872200-50873800	Weak transcription	NH-A	brain
17	chr7:50872400-50873400	Weak transcription	A549	lung
18	chr7:50872800-50873200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:50872800-50873400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:50872800-50874400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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