Variant report

Variant	rs2511986
Chromosome Location	chr11:57231559-57231560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57223855..57226276-chr11:57231482..57234003,2	K562	blood:
2	chr11:57206559..57208550-chr11:57229585..57232498,2	K562	blood:
3	chr11:57229504..57231829-chr11:57239282..57241843,2	K562	blood:
4	chr11:57229455..57232112-chr11:57299211..57300946,2	K562	blood:
5	chr11:57229757..57231633-chr11:57244998..57247620,2	K562	blood:

Variant related genes	Relation type
ENSG00000255301	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1001956	0.85[CEU][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs2250673	0.91[ASN][1000 genomes]
rs2258835	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2467327	0.85[ASN][1000 genomes]
rs2509899	0.91[ASN][1000 genomes]
rs2511984	0.85[ASN][1000 genomes]
rs2581921	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2581922	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2581923	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2584856	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2584862	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2649667	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2729353	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729363	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729377	0.84[ASN][1000 genomes]
rs2729384	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729387	0.82[ASN][1000 genomes]
rs2729394	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2848626	0.82[ASN][1000 genomes]
rs2848634	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2848635	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2848640	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3851117	0.80[CEU][hapmap];0.85[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2511986	TIMM10	cis	multi-tissue	Pritchard
rs2511986	TIMM10	cis	Brain Pons	GTEx
rs2511986	TIMM10	cis	Frontal Cortex	GTEx
rs2511986	TIMM10	cis	Cerebellum	GTEx
rs2511986	TIMM10	cis	Lymphoblastoid	GTEx
rs2511986	TIMM10	cis	Esophagus Mucosa	GTEx
rs2511986	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs2511986	TIMM10	cis	Thyroid	GTEx
rs2511986	TIMM10	cis	Artery Tibial	GTEx
rs2511986	TIMM10	cis	Temporal Cortex	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57228800-57231800	Weak transcription	Spleen	Spleen
2	chr11:57228800-57232000	Weak transcription	K562	blood
3	chr11:57228800-57235200	Weak transcription	Lung	lung
4	chr11:57228800-57238800	Weak transcription	Pancreas	Pancrea
5	chr11:57228800-57240000	Weak transcription	Hela-S3	cervix
6	chr11:57228800-57241600	Weak transcription	Right Atrium	heart
7	chr11:57229000-57231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57229200-57231800	Weak transcription	Esophagus	oesophagus
9	chr11:57229200-57235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57229400-57232200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:57229600-57232000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:57229600-57233000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:57229800-57238200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:57230000-57232000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr11:57230000-57232400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:57230200-57232200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57230400-57240000	Weak transcription	HepG2	liver
18	chr11:57230600-57231600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:57230600-57231800	Enhancers	Fetal Brain Male	brain
20	chr11:57230600-57231800	Flanking Active TSS	Fetal Brain Female	brain
21	chr11:57230600-57232200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr11:57230800-57231600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:57230800-57232000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:57230800-57232200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr11:57230800-57232200	Enhancers	HSMMtube	muscle
26	chr11:57230800-57232400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr11:57231000-57231600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:57231000-57232000	Weak transcription	Liver	Liver
29	chr11:57231200-57231600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:57231200-57231600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:57231200-57231600	Flanking Active TSS	A549	lung
32	chr11:57231200-57231800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr11:57231200-57231800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr11:57231200-57232000	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr11:57231200-57232200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr11:57231200-57232800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:57231400-57232400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:57231400-57233000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:57231400-57239800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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