Variant report

Variant	rs7572142
Chromosome Location	chr2:47070207-47070208
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	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1947110	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789429	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
rs7572142	MCFD2	cis	parietal	SCAN
rs7572142	MCFD2	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47060200-47070400	Weak transcription	NHDF-Ad	bronchial
2	chr2:47063400-47072200	Weak transcription	Placenta	Placenta
3	chr2:47063800-47072000	Weak transcription	Lung	lung
4	chr2:47063800-47072200	Weak transcription	Left Ventricle	heart
5	chr2:47063800-47072200	Weak transcription	Pancreas	Pancrea
6	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
9	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
10	chr2:47064000-47073200	Weak transcription	NHLF	lung
11	chr2:47067400-47073400	Weak transcription	Osteobl	bone
12	chr2:47067800-47070400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:47069200-47072800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:47069400-47072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:47069400-47073000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:47069400-47073400	Weak transcription	Stomach Mucosa	stomach
17	chr2:47069400-47073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:47070000-47070800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:47070200-47070400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr2:47070200-47070400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:47070200-47070400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:47070200-47070800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:47070200-47070800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:47070200-47070800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:47070200-47072000	Weak transcription	Right Ventricle	heart
27	chr2:47070200-47073200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:47070200-47073800	Enhancers	Stomach Smooth Muscle	stomach

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