Variant report

Variant	rs2555565
Chromosome Location	chr8:67358249-67358250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67344979..67348651-chr8:67356606..67358747,3	K562	blood:
2	chr8:67351366..67354034-chr8:67356194..67358324,2	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10088592	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1025228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030419	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957372	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12541098	0.86[ASN][1000 genomes]
rs1426907	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559885	0.85[ASN][1000 genomes]
rs1963852	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081649	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2162421	0.83[EUR][1000 genomes]
rs2357895	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465982	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465984	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465985	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555571	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555575	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555582	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2555587	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718988	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718990	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2719006	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2719009	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4737786	0.91[EUR][1000 genomes]
rs6472269	0.83[EUR][1000 genomes]
rs6472270	0.83[EUR][1000 genomes]
rs7002723	0.83[ASN][1000 genomes]
rs7005366	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753082	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845448	0.83[EUR][1000 genomes]
rs890515	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs890516	0.83[EUR][1000 genomes]
rs9693689	0.91[EUR][1000 genomes]
rs977467	0.92[EUR][1000 genomes];0.85[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	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	esv3339106	chr8:67356798-67361196	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2555565	C8orf46	cis	Thyroid	GTEx
rs2555565	C8orf46	cis	Esophagus Muscularis	GTEx
rs2555565	C8orf46	cis	Artery Tibial	GTEx
rs2555565	C8orf46	cis	Adipose Subcutaneous	GTEx
rs2555565	ADHFE1	cis	Muscle Skeletal	GTEx
rs2555565	ADHFE1	cis	Artery Tibial	GTEx
rs2555565	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
3	chr8:67352200-67360200	Weak transcription	Lung	lung
4	chr8:67352200-67360200	Weak transcription	Ovary	ovary
5	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
7	chr8:67352200-67361200	Weak transcription	Gastric	stomach
8	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
10	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
12	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
18	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
23	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:67353600-67360600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:67354000-67360000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
29	chr8:67354200-67360400	Weak transcription	Placenta	Placenta
30	chr8:67354800-67359400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:67355000-67361200	Weak transcription	Fetal Intestine Small	intestine
32	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:67355400-67361000	Weak transcription	Fetal Stomach	stomach
34	chr8:67355800-67359000	Weak transcription	Fetal Kidney	kidney
35	chr8:67356200-67358600	Weak transcription	Fetal Lung	lung
36	chr8:67356200-67359400	Strong transcription	Adipose Nuclei	Adipose
37	chr8:67356200-67360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:67356200-67360800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:67356200-67362200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:67356200-67374400	Strong transcription	Liver	Liver
41	chr8:67356400-67361800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
43	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr8:67357000-67358800	Strong transcription	Aorta	Aorta
45	chr8:67357200-67360800	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:67357400-67359000	Enhancers	Brain Angular Gyrus	brain
47	chr8:67357400-67359000	Enhancers	Brain Substantia Nigra	brain
48	chr8:67357400-67359000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:67357400-67359200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:67357400-67359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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