Variant report

Variant	rs7586612
Chromosome Location	chr2:47058526-47058527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47057725..47059943-chr2:47060673..47063152,2	MCF-7	breast:
2	chr2:47054203..47056588-chr2:47056736..47058616,2	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11686200	0.91[MEX][hapmap]
rs17035766	0.83[JPT][hapmap]
rs4953427	1.00[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs935374	0.96[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7586612	PREPL	cis	cerebellum	SCAN
rs7586612	SLC3A1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47051800-47059600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:47053000-47060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47055000-47063200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:47055400-47059800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:47055400-47062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:47055400-47063000	Weak transcription	Right Ventricle	heart
7	chr2:47055600-47060000	Enhancers	NHLF	lung
8	chr2:47056000-47060200	Enhancers	NHDF-Ad	bronchial
9	chr2:47056600-47062800	Weak transcription	Right Atrium	heart
10	chr2:47056800-47059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:47057200-47062400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:47057800-47059400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:47057800-47059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:47057800-47059800	Enhancers	Hela-S3	cervix
15	chr2:47058000-47058600	Enhancers	Fetal Intestine Small	intestine
16	chr2:47058000-47059000	Enhancers	Fetal Intestine Large	intestine
17	chr2:47058000-47059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:47058000-47059600	Enhancers	Fetal Lung	lung
19	chr2:47058000-47060000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47058200-47059000	Enhancers	Adipose Nuclei	Adipose
21	chr2:47058200-47059600	Enhancers	Osteobl	bone
22	chr2:47058200-47060000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:47058400-47058800	Enhancers	NH-A	brain
24	chr2:47058400-47059000	Enhancers	HepG2	liver
25	chr2:47058400-47059400	Enhancers	Placenta	Placenta

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