Variant report

Variant	rs73691543
Chromosome Location	chr8:67382075-67382076
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	chr17:57920618..57922939-chr8:67379137..67382122,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10112574	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1030420	0.81[AMR][1000 genomes]
rs12335128	0.80[ASN][1000 genomes]
rs1978566	0.82[ASN][1000 genomes]
rs2303519	0.80[ASN][1000 genomes]
rs7014273	0.81[AMR][1000 genomes]
rs890514	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73691543	C8orf46	cis	Adipose Subcutaneous	GTEx
rs73691543	C8orf46	cis	Nerve Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
5	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:67372600-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:67372800-67383600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:67374400-67382200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:67374800-67384600	Weak transcription	Lung	lung
16	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
17	chr8:67375000-67384600	Weak transcription	Right Ventricle	heart
18	chr8:67376400-67382200	Weak transcription	NHEK	skin
19	chr8:67376400-67382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:67376400-67383000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:67376400-67383800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:67376400-67384200	Weak transcription	HSMM	muscle
23	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
24	chr8:67376800-67382200	Weak transcription	NH-A	brain
25	chr8:67376800-67383600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:67376800-67384000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:67376800-67384800	Weak transcription	Fetal Lung	lung
28	chr8:67377200-67382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:67377400-67382800	Weak transcription	Hela-S3	cervix
31	chr8:67379400-67382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:67379400-67383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:67379400-67383600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:67379400-67383800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:67379400-67383800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:67379600-67384200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:67379600-67384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:67379600-67384200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:67379800-67384400	Weak transcription	Left Ventricle	heart
40	chr8:67380000-67386000	Weak transcription	Fetal Intestine Large	intestine
41	chr8:67380600-67383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:67380800-67382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:67380800-67384200	Weak transcription	Brain Anterior Caudate	brain
44	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
45	chr8:67381000-67382800	Weak transcription	Placenta	Placenta
46	chr8:67381000-67383400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:67381000-67384200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:67381000-67388200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:67381200-67382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:67381200-67382800	Weak transcription	Stomach Smooth Muscle	stomach

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