Variant report

Variant	rs12781422
Chromosome Location	chr10:96053789-96053790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96051798..96054215-chr10:96059614..96061716,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12766693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12773803	0.82[EUR][1000 genomes]
rs12774398	0.84[EUR][1000 genomes]
rs12780240	0.81[AMR][1000 genomes]
rs12781481	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12781628	0.84[EUR][1000 genomes]
rs12782263	0.82[EUR][1000 genomes]
rs12783744	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12783751	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678	0.84[EUR][1000 genomes]
rs17438643	0.84[EUR][1000 genomes]
rs17438706	0.84[EUR][1000 genomes]
rs17439123	0.82[EUR][1000 genomes]
rs17516758	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17516904	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17517368	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17517515	0.84[EUR][1000 genomes]
rs17517578	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17517669	0.82[EUR][1000 genomes]
rs28478908	0.96[ASN][1000 genomes]
rs3203713	0.84[EUR][1000 genomes]
rs34053022	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34573359	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34999028	0.82[EUR][1000 genomes]
rs35058175	0.84[EUR][1000 genomes]
rs35084709	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35258481	0.86[EUR][1000 genomes]
rs35446195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35658839	0.90[AMR][1000 genomes]
rs3758524	0.96[ASN][1000 genomes]
rs3758528	0.96[ASN][1000 genomes]
rs4394764	0.83[AMR][1000 genomes]
rs55666785	0.96[ASN][1000 genomes]
rs55980465	0.84[ASN][1000 genomes]
rs56041302	0.96[ASN][1000 genomes]
rs56041757	0.96[ASN][1000 genomes]
rs56141979	0.96[ASN][1000 genomes]
rs56240705	0.96[ASN][1000 genomes]
rs56376834	0.96[ASN][1000 genomes]
rs56400969	0.88[ASN][1000 genomes]
rs71480900	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71482303	0.81[EUR][1000 genomes]
rs71482304	0.82[EUR][1000 genomes]
rs71482305	0.82[EUR][1000 genomes]
rs7914997	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12781422	NOC3L	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96015000-96070200	Weak transcription	Fetal Brain Female	brain
2	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
3	chr10:96035600-96066800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
5	chr10:96037800-96069000	Weak transcription	Gastric	stomach
6	chr10:96040200-96066200	Weak transcription	Pancreas	Pancrea
7	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
8	chr10:96045600-96058200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:96045800-96061800	Weak transcription	Colonic Mucosa	Colon
10	chr10:96046200-96066200	Weak transcription	Right Atrium	heart
11	chr10:96047400-96060800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:96047800-96068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:96048800-96074800	Weak transcription	Placenta	Placenta
14	chr10:96049000-96058200	Weak transcription	Aorta	Aorta
15	chr10:96049400-96058000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr10:96049400-96081600	Weak transcription	Spleen	Spleen
17	chr10:96049600-96058200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:96050200-96056800	Weak transcription	Fetal Intestine Small	intestine
19	chr10:96051200-96054400	Weak transcription	Fetal Intestine Large	intestine
20	chr10:96051400-96058200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:96051600-96053800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:96051600-96057200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:96052000-96055400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:96052200-96053800	Enhancers	Adipose Nuclei	Adipose
25	chr10:96052200-96053800	Enhancers	Fetal Stomach	stomach
26	chr10:96052600-96055600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:96052600-96055800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:96052800-96055200	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:96052800-96055800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:96052800-96059000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:96052800-96073600	Weak transcription	Ovary	ovary
32	chr10:96053000-96056600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:96053000-96058400	Weak transcription	Brain Anterior Caudate	brain
34	chr10:96053000-96059200	Weak transcription	HSMMtube	muscle
35	chr10:96053000-96068200	Weak transcription	Fetal Brain Male	brain
36	chr10:96053000-96083200	Weak transcription	Fetal Kidney	kidney
37	chr10:96053200-96081600	Weak transcription	Brain Substantia Nigra	brain
38	chr10:96053400-96054400	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:96053400-96058200	Weak transcription	A549	lung
40	chr10:96053400-96058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:96053400-96058400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:96053400-96058400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:96053400-96059200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:96053400-96066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:96053400-96069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:96053400-96073000	Weak transcription	Fetal Lung	lung
47	chr10:96053600-96054000	Weak transcription	Osteobl	bone

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