Variant report

Variant	rs2555568
Chromosome Location	chr8:67362864-67362865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67347726..67350540-chr8:67362226..67363853,2	K562	blood:
2	chr8:67343549..67345743-chr8:67361458..67364132,2	K562	blood:
3	chr8:67360913..67363800-chr8:67364065..67366392,2	MCF-7	breast:
4	chr8:67358368..67361034-chr8:67361272..67364476,3	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1030421	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1060242	0.86[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1108	1.00[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12544088	0.99[ASN][1000 genomes]
rs13682	0.86[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1978566	0.84[MEX][hapmap]
rs2059640	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059641	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059642	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2357894	0.81[ASN][1000 genomes]
rs2465990	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2555569	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555570	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2555572	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2555574	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2718988	0.80[EUR][1000 genomes]
rs2719000	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2719002	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2719004	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2719005	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2719008	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35352031	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs4737798	0.99[ASN][1000 genomes]
rs55878528	0.85[ASN][1000 genomes]
rs6993131	0.95[ASN][1000 genomes]
rs7005590	0.97[ASN][1000 genomes]
rs7014980	1.00[CHB][hapmap];0.83[JPT][hapmap]

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:20)

SNP	Gene	Cis/trans	Tissue	Source
rs2555568	ADHFE1	cis	parietal	SCAN
rs2555568	C8orf46	cis	Adipose Subcutaneous	GTEx
rs2555568	ADHFE1	cis	multi-tissue	Pritchard
rs2555568	C8orf46	cis	lung	GTEx
rs2555568	C8orf46	cis	Nerve Tibial	GTEx
rs2555568	C8orf46	cis	Thyroid	GTEx
rs2555568	ADHFE1	cis	Heart Left Ventricle	GTEx
rs2555568	ADHFE1	cis	Nerve Tibial	GTEx
rs2555568	ADHFE1	cis	cerebellum	SCAN
rs2555568	C8orf46	cis	Artery Tibial	GTEx
rs2555568	C8orf46	cis	Esophagus Mucosa	GTEx
rs2555568	C8orf46	cis	Stomach	GTEx
rs2555568	ADHFE1	cis	Artery Tibial	GTEx
rs2555568	C8orf46	cis	Esophagus Muscularis	GTEx
rs2555568	ADHFE1	cis	Muscle Skeletal	GTEx
rs2555568	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2555568	ADHFE1	cis	Thyroid	GTEx
rs2555568	CPA6	cis	parietal	SCAN
rs2555568	C8orf46	cis	Muscle Skeletal	GTEx
rs2555568	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
2	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
3	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
7	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
11	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:67356200-67374400	Strong transcription	Liver	Liver
13	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
14	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr8:67357400-67365000	Weak transcription	Primary T cells from cord blood	blood
16	chr8:67357800-67363400	Strong transcription	Left Ventricle	heart
17	chr8:67358400-67364200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:67358600-67364600	Weak transcription	Right Atrium	heart
19	chr8:67358600-67365800	Strong transcription	Fetal Lung	lung
20	chr8:67358800-67365400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:67359000-67365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:67359000-67365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:67359000-67365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
25	chr8:67359200-67364200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67359200-67364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:67359200-67365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:67359200-67367200	Weak transcription	HSMM	muscle
29	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:67359400-67364200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:67359400-67366400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
34	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67360200-67366000	Strong transcription	Aorta	Aorta
36	chr8:67360200-67366000	Strong transcription	Lung	lung
37	chr8:67360200-67366400	Strong transcription	Ovary	ovary
38	chr8:67360400-67363400	Strong transcription	Placenta	Placenta
39	chr8:67360600-67363000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:67360800-67363000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:67360800-67363200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr8:67360800-67365000	Strong transcription	Adipose Nuclei	Adipose
45	chr8:67360800-67365400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:67360800-67365600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:67360800-67366000	Strong transcription	Brain Anterior Caudate	brain
48	chr8:67360800-67366200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:67360800-67366400	Strong transcription	Pancreas	Pancrea
50	chr8:67360800-67366600	Strong transcription	Brain Inferior Temporal Lobe	brain

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