Variant report

Variant	rs2930329
Chromosome Location	chr7:140360644-140360645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1106846	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1140034	0.89[MKK][hapmap]
rs2364397	0.88[MKK][hapmap]
rs2364399	0.81[MKK][hapmap]
rs28828674	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28896544	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908235	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930315	0.82[CEU][hapmap]
rs2930320	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap]
rs2930325	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs2930326	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930328	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930330	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930332	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968546	0.85[CEU][hapmap]
rs2968550	0.89[MKK][hapmap]
rs2968553	0.89[MKK][hapmap]
rs2968559	0.89[MKK][hapmap]
rs2968560	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464937	0.89[MKK][hapmap]
rs6969644	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6977496	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7785630	0.82[CEU][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7802537	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803697	0.89[MKK][hapmap]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2930329	ADCK2	Cis_1M	lymphoblastoid	RTeQTL
rs2930329	ZYX	cis	cerebellum	SCAN
rs2930329	ADCK2	cis	parietal	SCAN
rs2930329	ADCK2	cis	multi-tissue	Pritchard
rs2930329	TRIM24	cis	parietal	SCAN

Chromatin state (count:4 , 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	chr7:140357400-140361200	Weak transcription	Placenta	Placenta
3	chr7:140357400-140361200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:140360200-140361200	Weak transcription	Osteobl	bone

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