Variant report

Variant	rs10458275
Chromosome Location	chr7:140321562-140321563
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	chr7:140320485..140322777-chr7:140324198..140327820,3	K562	blood:
2	chr7:140319770..140321765-chr7:140333430..140335076,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10279057	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952779	0.83[AMR][1000 genomes]
rs11767550	0.82[AMR][1000 genomes]
rs17621539	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs17621746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28498721	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57021669	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10458275	NDUFB2	cis	cerebellum	SCAN
rs10458275	ADCK2	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
3	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
4	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
6	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:140307600-140326000	Weak transcription	Spleen	Spleen
8	chr7:140308400-140324000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:140308800-140322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:140308800-140323800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:140310800-140323800	Weak transcription	Fetal Lung	lung
12	chr7:140310800-140326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:140311200-140321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:140311200-140323600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:140315000-140323800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:140315400-140321600	Weak transcription	Fetal Stomach	stomach
17	chr7:140315400-140323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:140317600-140323800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:140318000-140321600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:140318000-140322600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:140319000-140323800	Weak transcription	Placenta	Placenta
22	chr7:140319200-140325800	Weak transcription	Brain Germinal Matrix	brain
23	chr7:140320000-140321600	Enhancers	Brain Hippocampus Middle	brain
24	chr7:140320000-140322400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:140320200-140323400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:140320400-140321600	Enhancers	Brain Substantia Nigra	brain
27	chr7:140320400-140321800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:140320400-140322000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:140320400-140322000	Enhancers	HMEC	breast
30	chr7:140320400-140323400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:140320600-140321600	Enhancers	NHDF-Ad	bronchial
32	chr7:140320600-140321800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:140320600-140326000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:140320600-140326000	Weak transcription	Left Ventricle	heart
35	chr7:140320600-140326000	Weak transcription	Right Atrium	heart
36	chr7:140320800-140321600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:140320800-140322200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:140320800-140323600	Weak transcription	Adipose Nuclei	Adipose
39	chr7:140320800-140323600	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:140320800-140323800	Weak transcription	Right Ventricle	heart
41	chr7:140320800-140326200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:140320800-140326200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:140321000-140321800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:140321000-140322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:140321000-140323000	Enhancers	NHLF	lung
46	chr7:140321200-140321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:140321200-140321800	Flanking Active TSS	NH-A	brain
48	chr7:140321200-140322000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:140321400-140321600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:140321400-140321800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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