Variant report

Variant	rs530569
Chromosome Location	chr11:94169708-94169709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10831225	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11020802	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11020803	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12224966	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1257769	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1272743	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3017077	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs474577	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509723	0.86[AMR][1000 genomes]
rs509744	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs518640	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs521349	0.84[AMR][1000 genomes]
rs521669	0.83[CHB][hapmap];0.81[YRI][hapmap]
rs522596	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs535801	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs540199	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs540514	0.83[CHB][hapmap];0.95[YRI][hapmap]
rs550255	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs552126	0.83[CHB][hapmap];0.86[YRI][hapmap]
rs56108804	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs563807	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs581002	0.83[CHB][hapmap];0.95[YRI][hapmap]
rs584707	0.83[CHB][hapmap];0.81[YRI][hapmap]
rs588701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59678918	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs598599	0.83[CHB][hapmap];0.89[YRI][hapmap]
rs603937	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs607974	0.83[CHB][hapmap];0.95[YRI][hapmap]
rs625245	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs639311	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641936	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs654718	0.81[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs657249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680695	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs948575	0.81[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs530569	RP11-685N10.1	cis	lung	GTEx
rs530569	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs530569	MRE11A	cis	Artery Tibial	GTEx
rs530569	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs530569	MRE11A	cis	brain	BrainEAC
rs530569	RP11-685N10.1	cis	Thyroid	GTEx
rs530569	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs530569	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs530569	RP11-685N10.1	cis	Artery Aorta	GTEx
rs530569	MRE11A	cis	Thyroid	GTEx
rs530569	MRE11A	cis	Nerve Tibial	GTEx
rs530569	MRE11A	cis	cerebellar cortex	BrainEAC
rs530569	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs530569	MRE11A	cis	Whole Blood	GTEx
rs530569	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs530569	MRE11A	cis	Artery Aorta	GTEx
rs530569	MRE11A	cis	Adipose Subcutaneous	GTEx
rs530569	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs530569	MRE11A	cis	Esophagus Muscularis	GTEx
rs530569	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs530569	MRE11A	cis	Stomach	GTEx
rs530569	RP11-685N10.1	cis	Artery Tibial	GTEx
rs530569	RP11-685N10.1	cis	Stomach	GTEx
rs530569	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs530569	MRE11A	cis	lung	GTEx
rs530569	MRE11A	cis	Esophagus Mucosa	GTEx
rs530569	MRE11A	cis	Heart Left Ventricle	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
3	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
7	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
13	chr11:94157600-94182200	Weak transcription	Osteobl	bone
14	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
15	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:94161000-94183000	Strong transcription	Dnd41	blood
17	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:94161400-94170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:94162000-94170000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:94162800-94170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:94163000-94170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:94163000-94171600	Weak transcription	Fetal Heart	heart
26	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
28	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
29	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:94163200-94177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:94163200-94179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
35	chr11:94164000-94169800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:94164400-94170000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:94164400-94170000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:94164400-94170200	Strong transcription	Primary B cells from cord blood	blood
39	chr11:94164800-94170000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr11:94164800-94170200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr11:94165200-94169800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:94165400-94170000	Strong transcription	Left Ventricle	heart
43	chr11:94165600-94170600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:94165800-94170000	Strong transcription	Liver	Liver
45	chr11:94166000-94170400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:94166200-94170000	Strong transcription	Adipose Nuclei	Adipose
47	chr11:94166200-94170000	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:94166200-94170000	Strong transcription	Fetal Thymus	thymus
49	chr11:94166200-94170200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:94166200-94170200	Strong transcription	GM12878-XiMat	blood

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