Variant report

Variant	rs2396559
Chromosome Location	chr6:45847678-45847679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45841537..45843266-chr6:45846464..45848348,2	K562	blood:
2	chr6:45847378..45849945-chr6:45850338..45851947,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs868905	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369587	0.81[ASN][1000 genomes]
rs9381404	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9381405	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9381406	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9463143	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9472599	0.86[EUR][1000 genomes]
rs982907	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv885866	chr6:45825244-45863826	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2396559	MEA1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45846200-45847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45847000-45849800	Enhancers	Fetal Intestine Small	intestine
3	chr6:45847000-45850600	Enhancers	Fetal Lung	lung
4	chr6:45847200-45848000	Enhancers	Pancreas	Pancrea
5	chr6:45847200-45848000	Enhancers	Spleen	Spleen
6	chr6:45847200-45848200	Enhancers	Right Atrium	heart
7	chr6:45847200-45848200	Enhancers	Right Ventricle	heart
8	chr6:45847200-45848400	Enhancers	Left Ventricle	heart
9	chr6:45847200-45848400	Enhancers	HepG2	liver
10	chr6:45847200-45848800	Enhancers	Fetal Intestine Large	intestine
11	chr6:45847200-45849200	Enhancers	Fetal Heart	heart
12	chr6:45847200-45849200	Enhancers	Placenta	Placenta
13	chr6:45847200-45850000	Enhancers	Fetal Stomach	stomach
14	chr6:45847400-45848200	Enhancers	Small Intestine	intestine
15	chr6:45847400-45848400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:45847400-45848800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:45847400-45849200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:45847400-45849200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:45847600-45847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:45847600-45848000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:45847600-45848000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:45847600-45848000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:45847600-45848000	Flanking Active TSS	Stomach Mucosa	stomach
24	chr6:45847600-45848200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:45847600-45848400	Enhancers	NHDF-Ad	bronchial
26	chr6:45847600-45849400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:45847600-45850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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