Variant report

Variant	rs16919047
Chromosome Location	chr8:67334099-67334100
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66948659..66949166-chr8:67333647..67334531,2	MCF-7	breast:
2	chr8:66949252..66949997-chr8:67333809..67334625,2	MCF-7	breast:
3	chr8:67053287..67054191-chr8:67333871..67334680,3	MCF-7	breast:
4	chr8:66976835..66977882-chr8:67333673..67334537,6	MCF-7	breast:
5	chr8:66948854..66949575-chr8:67333726..67334881,3	K562	blood:
6	chr8:67333368..67336415-chr8:67339559..67342231,3	MCF-7	breast:
7	chr8:67088832..67090094-chr8:67333566..67334549,4	MCF-7	breast:
8	chr8:67331927..67334927-chr8:67335306..67337724,3	K562	blood:
9	chr8:67088691..67089331-chr8:67333697..67334597,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYBL1-1	chr8:67331824-67336017	XLOC_007111
2	lnc-MYBL1-1	chr8:67331822-67336017	NONHSAT127020

No data

Variant related genes	Relation type
ENSG00000246145	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10504396	0.81[AFR][1000 genomes]
rs11989945	0.92[AFR][1000 genomes]
rs12541622	0.80[AFR][1000 genomes]
rs12547412	0.80[AFR][1000 genomes]
rs16919046	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2098945	0.97[AFR][1000 genomes]
rs2719007	0.82[CHB][hapmap]
rs28372872	0.80[AFR][1000 genomes]
rs4737228	0.91[AFR][1000 genomes]
rs4737788	0.95[AFR][1000 genomes]
rs4737793	0.80[AFR][1000 genomes]
rs4737794	0.80[AFR][1000 genomes]
rs4737795	0.88[AFR][1000 genomes]
rs56176340	0.80[AFR][1000 genomes]
rs57951167	0.97[AFR][1000 genomes]
rs66470447	0.81[AFR][1000 genomes]
rs66713752	0.80[AFR][1000 genomes]
rs66716606	0.81[AFR][1000 genomes]
rs66779163	0.81[AFR][1000 genomes]
rs66967250	0.80[AFR][1000 genomes]
rs66996327	0.97[AFR][1000 genomes]
rs67472590	0.80[AFR][1000 genomes]
rs6993146	0.95[AFR][1000 genomes]
rs6994570	0.91[AFR][1000 genomes]
rs6998057	0.80[AFR][1000 genomes]
rs6998839	0.97[AFR][1000 genomes]
rs7009437	0.80[AFR][1000 genomes]
rs72652713	0.81[AFR][1000 genomes]
rs72652714	0.81[AFR][1000 genomes]
rs73253606	0.93[AFR][1000 genomes]
rs7828145	0.80[AFR][1000 genomes]
rs7838277	0.80[AFR][1000 genomes]
rs7838488	0.97[AFR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16919047	ADHFE1	cis	parietal	SCAN
rs16919047	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67330800-67334600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:67330800-67335200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:67330800-67337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67330800-67337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:67330800-67340200	Weak transcription	Pancreas	Pancrea
6	chr8:67331000-67340200	Weak transcription	Liver	Liver
7	chr8:67332600-67335600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:67332600-67335600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:67332600-67335600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:67332600-67336800	Weak transcription	Placenta	Placenta
11	chr8:67332800-67334400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:67332800-67335600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:67333000-67334400	Enhancers	A549	lung
14	chr8:67333000-67334600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:67333000-67335200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:67333200-67334200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:67333200-67334600	Enhancers	HUVEC	blood vessel
18	chr8:67333200-67334600	Enhancers	NHDF-Ad	bronchial
19	chr8:67333200-67340200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:67333400-67334200	Enhancers	Brain Germinal Matrix	brain
21	chr8:67333400-67334400	Enhancers	NH-A	brain
22	chr8:67333400-67334400	Enhancers	NHEK	skin
23	chr8:67333600-67334200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:67333600-67334400	Enhancers	GM12878-XiMat	blood
25	chr8:67333600-67335600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:67333600-67335600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:67333600-67336000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:67333800-67334200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:67333800-67334400	Enhancers	NHLF	lung
30	chr8:67333800-67335400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:67333800-67335600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:67334000-67336000	Weak transcription	Osteobl	bone
33	chr8:67334000-67336600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:67334000-67340200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:67334000-67340200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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