Variant report

Variant	rs890514
Chromosome Location	chr8:67371793-67371794
allele	G/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	FOS	chr8:67371295-67372226	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:67371286-67372294	MCF10A-Er-Src	breast:	n/a	chr8:67371585-67371594
3	RAD21	chr8:67371780-67372766	SK-N-SH	brain:	n/a	chr8:67372172-67372191
4	MYC	chr8:67371397-67372205	MCF10A-Er-Src	breast:	n/a	chr8:67371585-67371594
5	CTCF	chr8:67371790-67372533	HCT-116	colon:	n/a	chr8:67372173-67372194
6	CTCF	chr8:67371740-67371890	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
2	chr8:67370489..67372991-chr8:67834453..67837306,2	MCF-7	breast:

Variant related genes	Relation type
C8orf46	TF binding region
ENSG00000245910	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000254341	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10095148	0.91[ASN][1000 genomes]
rs10112574	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1030420	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10957375	0.91[ASN][1000 genomes]
rs11780639	0.98[ASN][1000 genomes]
rs12335128	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978566	0.95[ASN][1000 genomes]
rs2303519	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739334	0.82[ASN][1000 genomes]
rs3739337	0.80[ASN][1000 genomes]
rs7014273	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73691543	0.80[ASN][1000 genomes]
rs746149	0.84[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs890514	C8orf46	cis	Nerve Tibial	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	chr8:67359400-67384400	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	chr8:67366400-67372200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:67366400-67372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:67367600-67372200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:67368000-67372200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:67368200-67372600	Weak transcription	Left Ventricle	heart
31	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
32	chr8:67368800-67372400	Weak transcription	Ovary	ovary
33	chr8:67368800-67374000	Weak transcription	Fetal Intestine Large	intestine
34	chr8:67369000-67371800	Enhancers	A549	lung
35	chr8:67369000-67372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:67369000-67372200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:67369000-67372200	Weak transcription	HSMM	muscle
38	chr8:67369000-67372200	Weak transcription	NHLF	lung
39	chr8:67369000-67373400	Weak transcription	Lung	lung
40	chr8:67369000-67375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:67369000-67375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:67369000-67376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:67369000-67376000	Weak transcription	Fetal Heart	heart
44	chr8:67369200-67372000	Weak transcription	NHDF-Ad	bronchial
45	chr8:67369200-67372200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:67369200-67372200	Weak transcription	NH-A	brain
47	chr8:67369400-67372200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:67369400-67372600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:67369400-67373200	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:67369600-67372000	Weak transcription	Brain Hippocampus Middle	brain

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