Variant report

Variant	rs55878528
Chromosome Location	chr8:67365581-67365582
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	POLR2A	chr8:67365511-67365700	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr8:67365451-67365715	K562	blood:	n/a	chr8:67365574-67365585
3	SPI1	chr8:67365508-67366043	HL-60	blood:	n/a	chr8:67365794-67365807
4	FOS	chr8:67365487-67365707	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXP2	chr8:67365499-67365917	SK-N-MC	brain:	n/a	n/a
6	STAT3	chr8:67365505-67365785	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:67365464-67365759	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr8:67365521-67365674	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr8:67365414-67365779	Hela-S3	cervix:	n/a	chr8:67365733-67365745 chr8:67365574-67365585
10	CEBPB	chr8:67365493-67365724	H1-hESC	embryonic stem cell:	n/a	chr8:67365574-67365585
11	POLR2A	chr8:67365372-67365831	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr8:67365326-67365871	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr8:67365547-67365729	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:67365425-67365712	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr8:67365470-67365739	MCF10A-Er-Src	breast:	n/a	chr8:67365503-67365511
16	CEBPB	chr8:67365444-67365737	HepG2	liver:	n/a	chr8:67365574-67365585
17	CEBPB	chr8:67365465-67365718	A549	lung:	n/a	chr8:67365574-67365585
18	CEBPB	chr8:67365427-67365776	IMR90	lung:	n/a	chr8:67365733-67365745 chr8:67365574-67365585
19	CEBPB	chr8:67365368-67365813	A549	lung:	n/a	chr8:67365733-67365745 chr8:67365574-67365585
20	MYC	chr8:67365458-67365768	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr8:67365472-67365762	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr8:67365453-67365758	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67358722..67361670-chr8:67363913..67366041,2	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1030421	0.85[ASN][1000 genomes]
rs1060242	0.94[ASN][1000 genomes]
rs1108	0.94[ASN][1000 genomes]
rs12544088	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13682	0.93[ASN][1000 genomes]
rs2059640	0.94[ASN][1000 genomes]
rs2059641	0.94[ASN][1000 genomes]
rs2059642	0.94[ASN][1000 genomes]
rs2357893	0.87[ASN][1000 genomes]
rs2357894	0.94[ASN][1000 genomes]
rs2465990	0.94[ASN][1000 genomes]
rs2555568	0.85[ASN][1000 genomes]
rs2555569	0.87[ASN][1000 genomes]
rs2555570	0.94[ASN][1000 genomes]
rs2555572	0.94[ASN][1000 genomes]
rs2555574	0.94[ASN][1000 genomes]
rs2719000	0.94[ASN][1000 genomes]
rs2719002	0.94[ASN][1000 genomes]
rs2719004	0.94[ASN][1000 genomes]
rs2719005	0.94[ASN][1000 genomes]
rs2719008	0.81[ASN][1000 genomes]
rs35352031	0.81[ASN][1000 genomes]
rs4532579	0.84[ASN][1000 genomes]
rs4737798	0.84[ASN][1000 genomes]
rs6993131	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7005590	0.83[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	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs55878528	C8orf46	cis	Adipose Subcutaneous	GTEx
rs55878528	C8orf46	cis	Esophagus Muscularis	GTEx
rs55878528	C8orf46	cis	Artery Tibial	GTEx
rs55878528	C8orf46	cis	lung	GTEx
rs55878528	C8orf46	cis	Artery Aorta	GTEx
rs55878528	C8orf46	cis	Thyroid	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
5	chr8:67356200-67374400	Strong transcription	Liver	Liver
6	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
7	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
8	chr8:67358600-67365800	Strong transcription	Fetal Lung	lung
9	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
10	chr8:67359200-67367200	Weak transcription	HSMM	muscle
11	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:67359400-67366400	Strong transcription	Fetal Intestine Large	intestine
14	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
15	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:67360200-67366000	Strong transcription	Aorta	Aorta
17	chr8:67360200-67366000	Strong transcription	Lung	lung
18	chr8:67360200-67366400	Strong transcription	Ovary	ovary
19	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
21	chr8:67360800-67365600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:67360800-67366000	Strong transcription	Brain Anterior Caudate	brain
23	chr8:67360800-67366200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:67360800-67366400	Strong transcription	Pancreas	Pancrea
25	chr8:67360800-67366600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr8:67360800-67368000	Strong transcription	Brain Substantia Nigra	brain
27	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
30	chr8:67361400-67366400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:67361800-67366400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:67362200-67367800	Weak transcription	Osteobl	bone
35	chr8:67362400-67367600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:67362800-67365800	Weak transcription	Right Ventricle	heart
37	chr8:67363600-67365800	Strong transcription	Esophagus	oesophagus
38	chr8:67364000-67365600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:67364000-67365600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:67364000-67365800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:67364000-67365800	Strong transcription	Brain Angular Gyrus	brain
42	chr8:67364000-67366000	Strong transcription	Gastric	stomach
43	chr8:67364000-67367600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr8:67364200-67365600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:67364200-67368000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
47	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:67364600-67366000	Enhancers	Right Atrium	heart
49	chr8:67364600-67366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:67364600-67366200	Enhancers	Left Ventricle	heart

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