Variant report

Variant	rs7744486
Chromosome Location	chr6:45607827-45607828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45606805..45609759-chr6:45609969..45613635,3	K562	blood:
2	chr6:45606210..45607999-chr6:45616386..45618102,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12661124	0.82[ASN][1000 genomes]
rs12663210	0.82[ASN][1000 genomes]
rs12665637	0.82[ASN][1000 genomes]
rs16873543	0.93[GIH][hapmap];0.81[TSI][hapmap]
rs2020084	0.82[ASN][1000 genomes]
rs6458455	0.82[ASN][1000 genomes]
rs9296462	0.93[GIH][hapmap];0.81[TSI][hapmap]
rs9296463	0.84[ASN][1000 genomes]
rs9463108	0.93[GIH][hapmap];0.81[TSI][hapmap]
rs9472530	0.82[ASN][1000 genomes]
rs9472534	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7744486	ENPP4	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45604600-45609800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:45605000-45608600	Enhancers	HSMM	muscle
3	chr6:45606600-45608400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:45607000-45608800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:45607400-45608000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:45607400-45608200	Enhancers	HSMMtube	muscle
7	chr6:45607400-45608400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:45607400-45608400	Enhancers	NHLF	lung
9	chr6:45607400-45608600	Enhancers	Osteobl	bone
10	chr6:45607400-45608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:45607400-45608800	Enhancers	NHDF-Ad	bronchial
12	chr6:45607400-45609600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:45607600-45608000	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:45607600-45608200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:45607600-45608200	Enhancers	Fetal Stomach	stomach
16	chr6:45607600-45608400	Enhancers	NH-A	brain
17	chr6:45607600-45608800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:45607600-45608800	Enhancers	NHEK	skin
19	chr6:45607600-45609000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:45607800-45608000	Enhancers	Fetal Muscle Leg	muscle
21	chr6:45607800-45608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:45607800-45608200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:45607800-45608800	Enhancers	Placenta	Placenta
24	chr6:45607800-45609000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:45607800-45609000	Enhancers	HMEC	breast
26	chr6:45607800-45609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:45607800-45609800	Enhancers	Colon Smooth Muscle	Colon

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