Variant report

Variant	rs2555587
Chromosome Location	chr8:67368132-67368133
allele	A/T
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	MAX	chr8:67368014-67369054	A549	lung:	n/a	n/a
2	CHD1	chr8:67367903-67369184	IMR90	lung:	n/a	n/a
3	MAX	chr8:67368072-67369003	A549	lung:	n/a	n/a
4	CEBPB	chr8:67368099-67368832	IMR90	lung:	n/a	n/a
5	GATA3	chr8:67368046-67369016	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67367251..67370240-chr8:67562662..67564942,2	K562	blood:
2	chr8:67366507..67368766-chr8:67466802..67469221,2	K562	blood:

Variant related genes	Relation type
C8orf46	TF binding region
ADHFE1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1025228	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1030419	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1060242	0.86[EUR][1000 genomes]
rs10957372	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1108	0.86[EUR][1000 genomes]
rs13682	0.86[EUR][1000 genomes]
rs1426907	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1963852	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059640	0.86[EUR][1000 genomes]
rs2059641	0.86[EUR][1000 genomes]
rs2059642	0.86[EUR][1000 genomes]
rs2357894	0.80[EUR][1000 genomes]
rs2357895	0.81[AMR][1000 genomes]
rs2465982	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2465984	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2465985	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2465986	0.82[ASN][1000 genomes]
rs2465987	0.82[ASN][1000 genomes]
rs2465990	0.86[EUR][1000 genomes]
rs2555565	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555569	0.86[EUR][1000 genomes]
rs2555570	0.86[EUR][1000 genomes]
rs2555571	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555572	0.86[EUR][1000 genomes]
rs2555574	0.86[EUR][1000 genomes]
rs2555575	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555582	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718988	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718990	0.87[ASN][1000 genomes]
rs2719000	0.86[EUR][1000 genomes]
rs2719002	0.83[EUR][1000 genomes]
rs2719004	0.86[EUR][1000 genomes]
rs2719005	0.86[EUR][1000 genomes]
rs2719006	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005366	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs753082	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs890515	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs977467	0.82[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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2555587	C8orf46	cis	Thyroid	GTEx
rs2555587	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2555587	ADHFE1	cis	Nerve Tibial	GTEx
rs2555587	C8orf46	cis	lung	GTEx
rs2555587	ADHFE1	cis	Muscle Skeletal	GTEx
rs2555587	C8orf46	cis	Esophagus Muscularis	GTEx
rs2555587	ADHFE1	cis	Artery Tibial	GTEx
rs2555587	C8orf46	cis	Stomach	GTEx
rs2555587	C8orf46	cis	Nerve Tibial	GTEx
rs2555587	ADHFE1	cis	Thyroid	GTEx
rs2555587	C8orf46	cis	Artery Tibial	GTEx
rs2555587	C8orf46	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:80 , 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	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
7	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
10	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
12	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
13	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
16	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
18	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:67364800-67368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:67365600-67368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:67365600-67372200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:67365600-67372200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:67365800-67370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:67365800-67370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
32	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
33	chr8:67366000-67368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:67366000-67370400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:67366000-67370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:67366000-67372200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:67366000-67373400	Weak transcription	Gastric	stomach
38	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
39	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
40	chr8:67366200-67370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:67366400-67368200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:67366400-67371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:67366400-67372200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:67366400-67372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:67367000-67368400	Enhancers	A549	lung
47	chr8:67367000-67368800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:67367000-67369400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:67367200-67368800	Strong transcription	Ovary	ovary
50	chr8:67367200-67369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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