Variant report

Variant	rs11994638
Chromosome Location	chr8:99008895-99008896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
2	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:
3	chr8:99006609..99009034-chr8:99014356..99016713,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10090458	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987110	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11993552	0.81[YRI][hapmap]
rs11994595	0.84[AFR][1000 genomes]
rs11996661	0.88[AFR][1000 genomes]
rs12375372	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674810	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675146	0.80[EUR][1000 genomes]
rs12675608	0.81[EUR][1000 genomes]
rs12676252	0.89[JPT][hapmap]
rs12680911	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378121	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896467	0.91[EUR][1000 genomes]
rs16896468	0.91[EUR][1000 genomes]
rs16896471	0.92[EUR][1000 genomes]
rs16896476	0.96[EUR][1000 genomes]
rs16896503	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896514	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896518	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896564	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16896600	0.91[CHB][hapmap];0.87[EUR][1000 genomes]
rs1869607	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961270	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010014	0.84[EUR][1000 genomes]
rs2061053	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2290473	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513844	0.81[EUR][1000 genomes]
rs34354078	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35407519	0.85[EUR][1000 genomes]
rs4734381	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735516	0.96[EUR][1000 genomes]
rs4735519	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60346298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60580631	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980810	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004981	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs7010226	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012944	1.00[YRI][hapmap]
rs7018411	0.93[EUR][1000 genomes]
rs72677062	0.85[EUR][1000 genomes]
rs72677068	0.85[EUR][1000 genomes]
rs72677085	0.91[EUR][1000 genomes]
rs72677098	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678728	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72678733	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678734	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678737	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678752	0.82[EUR][1000 genomes]
rs72678755	0.81[EUR][1000 genomes]
rs72678761	0.83[EUR][1000 genomes]
rs7830701	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843262	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11994638	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
2	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98994600-99014200	Weak transcription	Ovary	ovary
5	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:99005800-99009200	Enhancers	Osteobl	bone
7	chr8:99006000-99009600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:99006400-99010000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:99006600-99009400	Enhancers	NHLF	lung
10	chr8:99007000-99009000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:99007000-99009600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:99007200-99009000	Enhancers	HSMMtube	muscle
14	chr8:99007400-99009000	Enhancers	Placenta	Placenta
15	chr8:99007400-99009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:99007400-99014000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:99007400-99014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:99007800-99009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:99007800-99010000	Enhancers	NHDF-Ad	bronchial
20	chr8:99008000-99009000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:99008000-99009000	Enhancers	Hela-S3	cervix
22	chr8:99008000-99009600	Genic enhancers	Fetal Stomach	stomach
23	chr8:99008200-99009600	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:99008200-99009800	Enhancers	Right Atrium	heart
25	chr8:99008200-99015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:99008400-99009000	Enhancers	Esophagus	oesophagus
27	chr8:99008400-99009200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:99008400-99009600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:99008400-99009800	Enhancers	Adipose Nuclei	Adipose
30	chr8:99008400-99010000	Enhancers	Colon Smooth Muscle	Colon
31	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
32	chr8:99008600-99009000	Enhancers	Brain Angular Gyrus	brain
33	chr8:99008600-99013000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:99008600-99013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:99008800-99009000	ZNF genes & repeats	Pancreas	Pancrea
36	chr8:99008800-99009800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:99008800-99010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:99008800-99010000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:99008800-99014200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:99008800-99014200	Weak transcription	HSMM	muscle
41	chr8:99008800-99014200	Weak transcription	NH-A	brain
42	chr8:99008800-99014800	Weak transcription	Placenta Amnion	Placenta Amnion

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