Variant report

Variant	rs2848626
Chromosome Location	chr11:57283988-57283989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57260706..57264705-chr11:57283186..57286169,4	K562	blood:
2	chr11:57264825..57270955-chr11:57280277..57284813,10	K562	blood:
3	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction
ENSG00000134809	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1001956	0.89[ASN][1000 genomes]
rs1846567	0.81[EUR][1000 genomes]
rs1846568	0.81[EUR][1000 genomes]
rs2250673	0.90[ASN][1000 genomes]
rs2258835	0.80[ASN][1000 genomes]
rs2454663	0.80[EUR][1000 genomes]
rs2467327	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2509899	0.90[ASN][1000 genomes]
rs2511983	0.84[EUR][1000 genomes]
rs2511984	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511986	0.82[ASN][1000 genomes]
rs2581922	0.89[ASN][1000 genomes]
rs2584856	0.89[ASN][1000 genomes]
rs2649650	0.89[EUR][1000 genomes]
rs2649652	0.88[EUR][1000 genomes]
rs2649662	0.82[EUR][1000 genomes]
rs2649663	0.81[EUR][1000 genomes]
rs2649667	0.90[ASN][1000 genomes]
rs2729353	0.82[ASN][1000 genomes]
rs2729354	0.82[EUR][1000 genomes]
rs2729371	0.86[EUR][1000 genomes]
rs2729374	0.89[EUR][1000 genomes]
rs2729384	0.90[ASN][1000 genomes]
rs2729387	0.81[ASN][1000 genomes]
rs2848625	0.86[EUR][1000 genomes]
rs2848630	0.81[EUR][1000 genomes]
rs2848634	0.82[ASN][1000 genomes]
rs2848635	0.85[ASN][1000 genomes]
rs2848640	0.90[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	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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2848626	TIMM10	cis	Esophagus Muscularis	GTEx
rs2848626	TIMM10	cis	Esophagus Mucosa	GTEx
rs2848626	TIMM10	cis	lung	GTEx
rs2848626	TIMM10	cis	Artery Tibial	GTEx
rs2848626	TIMM10	cis	Thyroid	GTEx
rs2848626	TIMM10	cis	Artery Aorta	GTEx
rs2848626	YPEL4	cis	lung	GTEx
rs2848626	TIMM10	cis	Skin Sun Exposed Lower leg	GTEx
rs2848626	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs2848626	TIMM10	cis	multi-tissue	Pritchard
rs2848626	TIMM10	cis	Muscle Skeletal	GTEx
rs2848626	TIMM10	cis	Stomach	GTEx
rs2848626	TIMM10	cis	Heart Left Ventricle	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57280600-57284000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:57280600-57284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57281000-57284000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:57281200-57284000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:57281200-57284000	Active TSS	GM12878-XiMat	blood
6	chr11:57281400-57284000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:57281600-57284000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:57281600-57284000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr11:57281800-57284000	Active TSS	NHDF-Ad	bronchial
10	chr11:57282400-57284000	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:57282400-57284000	Active TSS	A549	lung
12	chr11:57283400-57284000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:57283400-57284000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:57283400-57297400	Weak transcription	Gastric	stomach
15	chr11:57283600-57284000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr11:57283600-57284000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:57283600-57292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:57283600-57292400	Weak transcription	Aorta	Aorta
19	chr11:57283600-57295200	Weak transcription	Lung	lung
20	chr11:57283600-57296000	Weak transcription	Spleen	Spleen
21	chr11:57283600-57296200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:57283800-57284000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:57283800-57284000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr11:57283800-57284000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr11:57283800-57284000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:57283800-57284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57283800-57284000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:57283800-57284000	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:57283800-57284000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:57283800-57284000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:57283800-57284000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:57283800-57284000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:57283800-57284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:57283800-57284000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:57283800-57284000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:57283800-57284000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:57283800-57284000	Enhancers	Liver	Liver
38	chr11:57283800-57284000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr11:57283800-57284000	Enhancers	Fetal Stomach	stomach
40	chr11:57283800-57284000	Enhancers	Ovary	ovary
41	chr11:57283800-57284000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:57283800-57284000	Active TSS	HepG2	liver
43	chr11:57283800-57284000	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:57283800-57284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:57283800-57284200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:57283800-57284800	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:57283800-57289600	Weak transcription	K562	blood
48	chr11:57283800-57291200	Weak transcription	Adipose Nuclei	Adipose
49	chr11:57283800-57292200	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:57283800-57292200	Weak transcription	Brain Inferior Temporal Lobe	brain

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