Variant report

Variant	rs7018411
Chromosome Location	chr8:98984549-98984550
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	chr8:98981599..98983583-chr8:98984099..98986745,2	MCF-7	breast:
2	chr8:98983972..98985766-chr8:98995097..98997700,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10090458	0.93[EUR][1000 genomes]
rs11994638	0.93[EUR][1000 genomes]
rs12375372	0.82[EUR][1000 genomes]
rs12674810	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12675146	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12675608	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680911	0.84[EUR][1000 genomes]
rs1378121	0.82[EUR][1000 genomes]
rs16892217	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896429	0.83[EUR][1000 genomes]
rs16896467	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896468	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896471	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16896476	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896503	0.93[EUR][1000 genomes]
rs16896514	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16896518	0.93[EUR][1000 genomes]
rs16896521	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16896531	0.93[EUR][1000 genomes]
rs16896564	0.82[EUR][1000 genomes]
rs16896600	0.80[EUR][1000 genomes]
rs1869607	0.97[EUR][1000 genomes]
rs1961270	0.93[EUR][1000 genomes]
rs2061053	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290473	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2513844	0.87[EUR][1000 genomes]
rs34354078	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35407519	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734381	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735519	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60346298	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60580631	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6980810	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010226	0.82[EUR][1000 genomes]
rs72677062	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72677068	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72677085	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677098	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72678728	0.80[EUR][1000 genomes]
rs72678733	0.82[EUR][1000 genomes]
rs72678734	0.82[EUR][1000 genomes]
rs7830701	0.80[EUR][1000 genomes]
rs7843262	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7018411	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98970000-98984800	Weak transcription	Fetal Kidney	kidney
3	chr8:98970000-98985200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:98970000-98992200	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:98970200-98984800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:98974400-98991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:98980000-98991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:98981000-98991200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:98982800-98985200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:98983000-98984800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:98983000-98985200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:98983000-98985400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:98983000-98990600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
18	chr8:98983200-98984600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:98983200-98984600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:98983200-98985600	Enhancers	NHDF-Ad	bronchial
21	chr8:98983200-98986200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:98983200-98986200	Enhancers	Osteobl	bone
23	chr8:98983600-98985000	Weak transcription	Brain Anterior Caudate	brain
24	chr8:98983800-98986000	Enhancers	Ovary	ovary
25	chr8:98983800-98990800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:98984000-98984800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:98984000-98985000	Weak transcription	NHLF	lung
28	chr8:98984000-98985200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:98984200-98985200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:98984400-98984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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