Variant report

Variant	rs62511216
Chromosome Location	chr8:67367142-67367143
allele	A/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	SPI1	chr8:67367137-67367413	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67366507..67368766-chr8:67466802..67469221,2	K562	blood:

Variant related genes	Relation type
ADHFE1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17405528	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2433593	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433594	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2465983	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555563	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555564	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555567	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555573	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555576	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2555588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555589	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718989	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2718997	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718998	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56256543	0.84[AMR][1000 genomes]
rs60331121	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511170	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7014306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62511216	ADHFE1	cis	Artery Tibial	GTEx
rs62511216	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
4	chr8:67356200-67374400	Strong transcription	Liver	Liver
5	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
6	chr8:67359200-67367200	Weak transcription	HSMM	muscle
7	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
10	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
13	chr8:67360800-67368000	Strong transcription	Brain Substantia Nigra	brain
14	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
16	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
17	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:67362200-67367800	Weak transcription	Osteobl	bone
20	chr8:67362400-67367600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:67364000-67367600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:67364200-67368000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
24	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
26	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:67364800-67368000	Weak transcription	NHEK	skin
28	chr8:67364800-67368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:67365000-67367200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:67365600-67367800	Weak transcription	NHDF-Ad	bronchial
36	chr8:67365600-67368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:67365600-67372200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:67365600-67372200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:67365800-67367200	Weak transcription	Hela-S3	cervix
41	chr8:67365800-67367400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:67365800-67367800	Weak transcription	Fetal Lung	lung
43	chr8:67365800-67370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:67365800-67370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
46	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
47	chr8:67366000-67367200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:67366000-67367200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:67366000-67367600	Weak transcription	Aorta	Aorta
50	chr8:67366000-67367800	Weak transcription	Lung	lung

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