Variant report

Variant	rs16932908
Chromosome Location	chr8:67391024-67391025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr8:67390920-67391233	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr8:67390844-67391523	SK-N-SH	brain:	n/a	chr8:67391249-67391266
3	GATA3	chr8:67390892-67391327	MCF-7	breast:	n/a	chr8:67391249-67391266
4	GATA2	chr8:67390978-67391227	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr8:67390821-67391404	SK-N-SH	brain:	n/a	chr8:67391249-67391266

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67385020..67386788-chr8:67389859..67392152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253623	TF binding region
ENSG00000169085	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10095700	0.81[CHB][hapmap]
rs12265	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541034	0.88[CHB][hapmap]
rs12545483	0.88[CHB][hapmap]
rs12546504	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547055	0.82[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677003	0.86[ASN][1000 genomes]
rs13274386	0.82[CEU][hapmap]
rs1559886	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16932940	0.88[CHB][hapmap]
rs16932942	0.88[CHB][hapmap]
rs2555580	0.82[JPT][hapmap]
rs34680830	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35188537	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3739336	0.82[CEU][hapmap]
rs3824263	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416809	0.84[ASN][1000 genomes]
rs6651308	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6995972	0.82[CHB][hapmap]
rs71515021	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs736458	0.88[CHB][hapmap]
rs746787	0.88[CHB][hapmap]
rs746789	0.88[CHB][hapmap]
rs9643398	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643581	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9643582	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16932908	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
3	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
4	chr8:67384400-67395800	Weak transcription	Osteobl	bone
5	chr8:67384600-67392200	Weak transcription	NHDF-Ad	bronchial
6	chr8:67384800-67392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:67384800-67392200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:67384800-67392200	Weak transcription	HSMMtube	muscle
9	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
10	chr8:67387400-67406400	Weak transcription	Liver	Liver
11	chr8:67389800-67391200	Enhancers	Hela-S3	cervix
12	chr8:67389800-67395200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:67390000-67395000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:67390000-67395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:67390000-67395400	Weak transcription	Placenta	Placenta
16	chr8:67390000-67395600	Weak transcription	Psoas Muscle	Psoas
17	chr8:67390200-67392000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:67390200-67392200	Weak transcription	NHLF	lung
19	chr8:67390200-67392400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:67390200-67392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:67390200-67393200	Weak transcription	HUVEC	blood vessel
22	chr8:67390400-67392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:67390400-67395600	Weak transcription	NHEK	skin
24	chr8:67390400-67395800	Weak transcription	HMEC	breast
25	chr8:67390800-67391400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:67390800-67392800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:67390800-67395000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:67391000-67392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:67391000-67392800	Enhancers	Fetal Lung	lung
30	chr8:67391000-67393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:67391000-67395800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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