Variant report

Variant	rs7110678
Chromosome Location	chr11:57285880-57285881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57282154..57283762-chr11:57284107..57286445,2	K562	blood:
2	chr11:57260706..57264705-chr11:57283186..57286169,4	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10896623	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12277281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3758921	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3851118	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938870	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4939148	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7109985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925116	0.88[AMR][1000 genomes];0.90[EUR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7110678	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs7110678	TIMM10	cis	Esophagus Muscularis	GTEx
rs7110678	TIMM10	cis	lung	GTEx
rs7110678	SMTNL1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57283400-57297400	Weak transcription	Gastric	stomach
2	chr11:57283600-57292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:57283600-57292400	Weak transcription	Aorta	Aorta
4	chr11:57283600-57295200	Weak transcription	Lung	lung
5	chr11:57283600-57296000	Weak transcription	Spleen	Spleen
6	chr11:57283600-57296200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:57283800-57289600	Weak transcription	K562	blood
8	chr11:57283800-57291200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:57283800-57292200	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:57283800-57292200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:57283800-57292200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:57283800-57292200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:57283800-57292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:57283800-57292400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:57283800-57292400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:57283800-57293800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:57283800-57293800	Weak transcription	HUVEC	blood vessel
18	chr11:57283800-57294400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:57283800-57294400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:57283800-57294600	Weak transcription	Primary T cells from cord blood	blood
21	chr11:57283800-57295000	Weak transcription	NHLF	lung
22	chr11:57283800-57295000	Weak transcription	Osteobl	bone
23	chr11:57283800-57295200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:57283800-57295200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:57283800-57295200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:57283800-57295200	Weak transcription	Fetal Intestine Small	intestine
27	chr11:57283800-57295200	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:57283800-57295800	Weak transcription	Fetal Intestine Large	intestine
29	chr11:57283800-57296000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:57283800-57296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:57283800-57296000	Weak transcription	Left Ventricle	heart
32	chr11:57283800-57296200	Weak transcription	HSMM	muscle
33	chr11:57283800-57296400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:57283800-57296600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:57283800-57296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:57283800-57297000	Weak transcription	Brain Angular Gyrus	brain
37	chr11:57283800-57297200	Weak transcription	Fetal Lung	lung
38	chr11:57283800-57297200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:57283800-57297200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:57283800-57297200	Weak transcription	Right Atrium	heart
41	chr11:57283800-57297200	Weak transcription	NH-A	brain
42	chr11:57283800-57297400	Weak transcription	Colonic Mucosa	Colon
43	chr11:57283800-57297400	Weak transcription	HSMMtube	muscle
44	chr11:57284000-57292200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:57284000-57292200	Weak transcription	A549	lung
46	chr11:57284000-57292400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:57284000-57294000	Weak transcription	GM12878-XiMat	blood
48	chr11:57284000-57294200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:57284000-57294600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:57284000-57295800	Weak transcription	Monocytes-CD14+_RO01746	blood

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