Variant report

Variant	rs2555589
Chromosome Location	chr8:67370833-67370834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67368485..67371409-chr8:67521786..67525460,5	MCF-7	breast:
2	chr8:67370489..67372991-chr8:67834453..67837306,2	MCF-7	breast:
3	chr8:67365709..67368396-chr8:67368954..67371561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245910	Chromatin interaction
ENSG00000254341	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17404672	0.81[AMR][1000 genomes]
rs17405528	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2433593	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2433594	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2433595	0.83[AFR][1000 genomes]
rs2465983	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2465988	0.83[AFR][1000 genomes]
rs2465989	0.83[AFR][1000 genomes]
rs2555563	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555564	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2555567	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2555573	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2555576	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555577	0.83[AFR][1000 genomes]
rs2555579	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555588	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2555590	0.81[AFR][1000 genomes]
rs2718989	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2718992	0.81[AFR][1000 genomes]
rs2718997	0.86[EUR][1000 genomes]
rs2718998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56256543	0.83[AMR][1000 genomes]
rs60331121	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511170	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62511216	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62511222	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62511944	0.81[AMR][1000 genomes]
rs62511945	0.81[AMR][1000 genomes]
rs7014306	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7015637	0.83[AMR][1000 genomes]
rs7835343	0.81[AMR][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
rs2555589	ADHFE1	cis	Artery Tibial	GTEx
rs2555589	ADHFE1	cis	Thyroid	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67356200-67374400	Strong transcription	Liver	Liver
3	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
4	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
5	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
6	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
10	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:67365600-67372200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:67365600-67372200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
20	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
21	chr8:67366000-67372200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:67366000-67373400	Weak transcription	Gastric	stomach
23	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
24	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
25	chr8:67366400-67371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67366400-67372200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:67366400-67372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:67367600-67371000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:67367600-67371200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:67367600-67372200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:67368000-67372200	Weak transcription	Brain Substantia Nigra	brain
33	chr8:67368200-67372600	Weak transcription	Left Ventricle	heart
34	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
35	chr8:67368800-67372400	Weak transcription	Ovary	ovary
36	chr8:67368800-67374000	Weak transcription	Fetal Intestine Large	intestine
37	chr8:67369000-67371000	Weak transcription	HMEC	breast
38	chr8:67369000-67371200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:67369000-67371800	Enhancers	A549	lung
40	chr8:67369000-67372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:67369000-67372200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:67369000-67372200	Weak transcription	HSMM	muscle
43	chr8:67369000-67372200	Weak transcription	NHLF	lung
44	chr8:67369000-67373400	Weak transcription	Lung	lung
45	chr8:67369000-67375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
49	chr8:67369200-67371000	Weak transcription	NHEK	skin
50	chr8:67369200-67372000	Weak transcription	NHDF-Ad	bronchial

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