Variant report

Variant	rs12674810
Chromosome Location	chr8:98994478-98994479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:
2	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:
3	chr8:98786769..98788995-chr8:98993109..98995354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104341	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994638	0.88[CHB][hapmap];1.00[JPT][hapmap];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]
rs12675146	0.80[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12676252	0.89[JPT][hapmap]
rs12680911	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1378121	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892217	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896467	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896468	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896471	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896514	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896531	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896564	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896600	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961270	1.00[CHB][hapmap];1.00[JPT][hapmap];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[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2290473	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513844	1.00[CEU][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735516	1.00[CEU][hapmap];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]
rs60346298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843262	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12674810	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:98985600-98995800	Weak transcription	A549	lung
4	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
6	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
7	chr8:98989200-98997200	Weak transcription	Liver	Liver
8	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:98991000-98997800	Enhancers	Osteobl	bone
11	chr8:98991200-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:98991400-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:98992200-98994600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:98992200-98996400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:98992200-98998200	Enhancers	NHLF	lung
16	chr8:98992600-98995800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:98992600-98996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:98992600-98996000	Weak transcription	HMEC	breast
19	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:98992800-98996400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:98992800-98996600	Weak transcription	NHEK	skin
22	chr8:98993200-98994600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:98993200-98994600	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr8:98993400-98995800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:98993600-98994600	Enhancers	Brain Angular Gyrus	brain
26	chr8:98993600-98994600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:98993600-98994600	Enhancers	Ovary	ovary
28	chr8:98993800-98994600	Enhancers	Brain Anterior Caudate	brain
29	chr8:98993800-98994600	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:98993800-98994600	Enhancers	Fetal Lung	lung
31	chr8:98994000-98994600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:98994000-98994800	Enhancers	Fetal Muscle Leg	muscle
33	chr8:98994000-98995200	Enhancers	Fetal Stomach	stomach
34	chr8:98994000-98995600	Weak transcription	HSMMtube	muscle
35	chr8:98994000-98995800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:98994200-98994800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:98994200-98995200	Weak transcription	NHDF-Ad	bronchial
38	chr8:98994200-98995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:98994200-98996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:98994400-98994600	Weak transcription	Right Ventricle	heart
42	chr8:98994400-98995600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:98994400-98995600	Weak transcription	HSMM	muscle
44	chr8:98994400-98995600	Weak transcription	NH-A	brain
45	chr8:98994400-98995800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:98994400-98997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain

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