Variant report

Variant	rs7593289
Chromosome Location	chr2:47056849-47056850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 1 )

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

rs_ID	r²[population]
rs17774133	0.83[GIH][hapmap];1.00[YRI][hapmap]
rs1867821	0.85[CHB][hapmap]
rs4953434	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs6719049	0.91[GIH][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7593289	MCFD2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47051200-47057200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47051800-47059600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:47053000-47060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:47054200-47057800	Genic enhancers	Placenta	Placenta
5	chr2:47055000-47063200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:47055200-47058000	Weak transcription	Fetal Lung	lung
7	chr2:47055400-47058000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:47055400-47058400	Weak transcription	NH-A	brain
9	chr2:47055400-47059800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:47055400-47062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:47055400-47063000	Weak transcription	Right Ventricle	heart
12	chr2:47055600-47057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:47055600-47060000	Enhancers	NHLF	lung
14	chr2:47055800-47058000	Genic enhancers	Osteobl	bone
15	chr2:47056000-47057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:47056000-47060200	Enhancers	NHDF-Ad	bronchial
17	chr2:47056200-47057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47056400-47057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:47056400-47057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:47056600-47058000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:47056600-47062800	Weak transcription	Right Atrium	heart
22	chr2:47056800-47057200	Enhancers	HepG2	liver
23	chr2:47056800-47057400	Enhancers	Fetal Thymus	thymus
24	chr2:47056800-47059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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