Variant report

Variant	rs793650
Chromosome Location	chr6:24395765-24395766
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24395571..24397261-chr6:24401614..24404339,2	K562	blood:
2	chr6:24388493..24391215-chr6:24394249..24397019,3	K562	blood:
3	chr6:24388493..24392053-chr6:24395083..24398329,4	K562	blood:

Variant related genes	Relation type
ENSG00000124532	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10946694	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12192494	0.86[JPT][hapmap]
rs12192603	0.86[JPT][hapmap]
rs12196464	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12527102	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1629620	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2025033	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2328820	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4382236	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4599626	0.86[JPT][hapmap]
rs6456608	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913986	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6940827	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs714452	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7751169	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7758878	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7768604	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770684	0.85[JPT][hapmap]
rs7775357	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs793649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793651	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs793658	0.86[EUR][1000 genomes]
rs793659	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793660	0.81[EUR][1000 genomes]
rs793662	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793663	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793666	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793676	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs793694	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793697	0.82[MKK][hapmap];0.93[YRI][hapmap]
rs793698	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs793699	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793701	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs793703	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs793720	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs793721	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs793722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs811102	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs811103	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs811578	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9366569	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9467121	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.82[ASN][1000 genomes]
rs9467123	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467124	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467126	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9467129	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9467134	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9467135	0.88[EUR][1000 genomes];0.92[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	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs793650	HIST1H2AC	cis	cerebellum	SCAN
rs793650	ZKSCAN4	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24394400-24396000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:24394600-24396000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:24394800-24395800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr6:24394800-24396000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:24394800-24396000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:24394800-24396000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:24394800-24396000	Enhancers	HMEC	breast
8	chr6:24394800-24397200	Enhancers	Placenta	Placenta
9	chr6:24395000-24395800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:24395000-24395800	Enhancers	Adipose Nuclei	Adipose
11	chr6:24395000-24396000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:24395000-24396000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:24395000-24396000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:24395000-24396000	Enhancers	HSMMtube	muscle
15	chr6:24395000-24396000	Enhancers	NHDF-Ad	bronchial
16	chr6:24395000-24396000	Enhancers	Osteobl	bone
17	chr6:24395200-24398800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:24395600-24395800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:24395600-24395800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr6:24395600-24396000	Enhancers	Hela-S3	cervix

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