Variant report

Variant	rs11024461
Chromosome Location	chr11:18089155-18089156
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	chr11:18083345..18085878-chr11:18088816..18091112,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10500831	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832880	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832882	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024449	0.81[CEU][hapmap]
rs11024458	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024460	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11024468	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024474	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs11024476	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024478	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11024482	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024484	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024485	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024493	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12360537	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12363226	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12364327	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12792460	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1399025	0.81[CHB][hapmap]
rs1975777	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2468842	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs35447333	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741199	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4052539	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4756930	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs5790015	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61882530	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6486406	0.82[CEU][hapmap]
rs7117439	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7118373	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7119063	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7131255	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131454	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7929920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7933259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7934091	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942794	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7943725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943884	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871699	0.81[CHB][hapmap]
rs907922	0.81[CHB][hapmap]
rs907923	0.81[ASN][1000 genomes]
rs964834	0.81[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11024461	SAAL1	cis	Adipose Subcutaneous	GTEx
rs11024461	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs11024461	SAAL1	cis	brain	BrainEAC
rs11024461	SAAL1	cis	lung	GTEx
rs11024461	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024461	SAAL1	cis	Esophagus Muscularis	GTEx
rs11024461	SAAL1	cis	Artery Tibial	GTEx
rs11024461	SAAL1	cis	Thyroid	GTEx
rs11024461	SAAL1	cis	hippocampus	BrainEAC
rs11024461	SAAL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:18081400-18100400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:18083200-18109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:18083400-18102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18084800-18090200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:18084800-18108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:18085200-18097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
10	chr11:18085400-18093800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:18085600-18101000	Weak transcription	Thymus	Thymus
12	chr11:18085600-18102000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:18085800-18095600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:18085800-18095800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:18085800-18100600	Weak transcription	Fetal Kidney	kidney
16	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
17	chr11:18086000-18095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:18086000-18100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:18086000-18101000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
21	chr11:18086200-18100600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:18086400-18107600	Weak transcription	Lung	lung
23	chr11:18086600-18100600	Weak transcription	Liver	Liver
24	chr11:18087400-18099800	Weak transcription	Dnd41	blood
25	chr11:18087400-18100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:18087400-18109800	Weak transcription	Gastric	stomach
27	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
28	chr11:18087600-18093800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:18087600-18099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:18087600-18100400	Weak transcription	HMEC	breast
31	chr11:18087600-18102400	Weak transcription	Brain Germinal Matrix	brain
32	chr11:18087600-18105200	Weak transcription	NHEK	skin
33	chr11:18087800-18100400	Weak transcription	Fetal Brain Female	brain
34	chr11:18087800-18100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:18088200-18100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:18088600-18100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:18088800-18101200	Weak transcription	Ovary	ovary

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