Variant report

Variant	rs7785630
Chromosome Location	chr7:140359732-140359733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140358422..140360016-chr7:140372833..140375314,2	MCF-7	breast:
2	chr7:140358444..140360553-chr7:140370671..140372780,2	MCF-7	breast:
3	chr7:140359495..140361678-chr7:140371801..140374254,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1106846	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977567	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28828674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28896544	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907951	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2907952	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2908235	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930316	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930317	0.83[ASN][1000 genomes]
rs2930320	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930323	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930325	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930328	0.82[CEU][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930329	0.82[CEU][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930330	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930332	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968546	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2968554	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2968556	0.81[AMR][1000 genomes]
rs2968560	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6969644	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802537	0.82[CEU][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7785630	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140357000-140361000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:140357200-140360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:140357400-140361200	Weak transcription	Placenta	Placenta
4	chr7:140357400-140361200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:140358200-140359800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:140359200-140359800	Enhancers	GM12878-XiMat	blood
7	chr7:140359600-140359800	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:140359600-140360200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:140359600-140360200	Enhancers	Fetal Muscle Leg	muscle
10	chr7:140359600-140360200	Enhancers	Osteobl	bone

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