Variant report

Variant	rs8004103
Chromosome Location	chr14:39335950-39335951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483548	0.94[ASN][1000 genomes]
rs1885138	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1957053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147133	0.93[ASN][1000 genomes]
rs8003758	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322991	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8004103	MIA2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39334200-39336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:39334600-39336800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr14:39334800-39336800	Enhancers	Brain Anterior Caudate	brain
4	chr14:39334800-39337200	Enhancers	Brain Angular Gyrus	brain
5	chr14:39334800-39339000	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:39334800-39340000	Enhancers	Brain Hippocampus Middle	brain
7	chr14:39334800-39340200	Enhancers	Brain Substantia Nigra	brain
8	chr14:39335000-39336200	Enhancers	Fetal Stomach	stomach
9	chr14:39335000-39336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:39335000-39337000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:39335200-39336000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:39335200-39336400	Enhancers	Fetal Heart	heart
13	chr14:39335200-39336800	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:39335200-39337400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr14:39335200-39337600	Weak transcription	Pancreas	Pancrea
16	chr14:39335400-39336200	Enhancers	Fetal Intestine Large	intestine
17	chr14:39335400-39336200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:39335400-39336400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:39335600-39336000	Enhancers	Brain Germinal Matrix	brain
20	chr14:39335600-39336200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:39335600-39336400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:39335600-39336800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:39335600-39337000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:39335600-39337600	Enhancers	Fetal Intestine Small	intestine
25	chr14:39335800-39336000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:39335800-39336200	Weak transcription	Fetal Lung	lung
27	chr14:39335800-39336400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:39335800-39336600	Weak transcription	Fetal Kidney	kidney
29	chr14:39335800-39336600	Enhancers	Psoas Muscle	Psoas
30	chr14:39335800-39337000	Enhancers	HUVEC	blood vessel

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