Variant report

Variant	rs60346298
Chromosome Location	chr8:98997041-98997042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98994950..98998234-chr8:99001793..99004607,3	K562	blood:
2	chr8:98983972..98985766-chr8:98995097..98997700,2	MCF-7	breast:
3	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:
4	chr8:98929668..98932562-chr8:98996810..98999331,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10090458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994638	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675146	0.80[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1378121	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892217	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896467	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896468	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896471	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896476	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896503	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896531	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896564	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896600	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869607	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961270	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes]
rs2061053	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2290473	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513844	0.81[EUR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35407519	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4734381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735516	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735519	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59704264	1.00[AFR][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018411	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72677068	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678728	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72678762	1.00[AFR][1000 genomes]
rs7830701	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843262	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	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	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
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2403334	chr8:98997042-98997043	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60346298	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
3	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
4	chr8:98989200-98997200	Weak transcription	Liver	Liver
5	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:98991000-98997800	Enhancers	Osteobl	bone
7	chr8:98992200-98998200	Enhancers	NHLF	lung
8	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:98994400-98997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:98994600-98997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:98994600-98997400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:98994600-98998000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:98994600-99014200	Weak transcription	Ovary	ovary
18	chr8:98995200-98998200	Enhancers	NHDF-Ad	bronchial
19	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
20	chr8:98995600-98997200	Enhancers	HSMMtube	muscle
21	chr8:98995600-98997600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:98995600-98997600	Enhancers	HSMM	muscle
23	chr8:98995800-98997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:98995800-98997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:98995800-98997800	Enhancers	A549	lung
26	chr8:98995800-99003400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:98996000-98997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:98996000-98998200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:98996200-98997800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:98996400-98997600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:98996400-98998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:98996400-99006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:98996600-99006800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:98996800-98997600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:98996800-98997600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:98996800-98997800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:98996800-98997800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:98997000-98997400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:98997000-98997800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:98997000-98997800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:98997000-98997800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:98997000-98997800	Enhancers	NH-A	brain
43	chr8:98997000-99001800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:98997000-99002400	Weak transcription	HMEC	breast
45	chr8:98997000-99002400	Weak transcription	NHEK	skin
46	chr8:98997000-99003000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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