Variant report

Variant	rs7118373
Chromosome Location	chr11:18123014-18123015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18119528..18121940-chr11:18122480..18124459,3	K562	blood:
2	chr11:18117056..18118615-chr11:18121734..18123448,2	MCF-7	breast:
3	chr11:18120429..18123330-chr11:18124710..18127285,2	K562	blood:
4	chr11:18121947..18124266-chr11:18125749..18127419,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10500831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10832880	0.92[EUR][1000 genomes]
rs10832882	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11024458	0.86[EUR][1000 genomes]
rs11024460	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11024461	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12363226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12364327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12792460	0.85[EUR][1000 genomes]
rs35447333	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5790015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61882530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7131454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7929920	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7933259	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7934091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942794	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943725	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7943884	0.96[EUR][1000 genomes]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7118373	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs7118373	SAAL1	cis	Esophagus Muscularis	GTEx
rs7118373	SAAL1	cis	lung	GTEx
rs7118373	SAAL1	cis	Artery Tibial	GTEx
rs7118373	SAAL1	cis	Adipose Subcutaneous	GTEx
rs7118373	SAAL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7118373	MRGPRX3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18099800-18124800	Strong transcription	Dnd41	blood
4	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
5	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:18100600-18125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:18100800-18126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:18103400-18126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:18104800-18125200	Strong transcription	Primary T cells from cord blood	blood
10	chr11:18104800-18125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:18105400-18125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:18107200-18126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:18107400-18125800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:18107600-18125400	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:18107800-18126200	Weak transcription	NHDF-Ad	bronchial
16	chr11:18108200-18125200	Strong transcription	Primary B cells from cord blood	blood
17	chr11:18110600-18126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:18111000-18123600	Weak transcription	Aorta	Aorta
19	chr11:18111000-18126600	Weak transcription	Right Ventricle	heart
20	chr11:18111200-18125200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:18113000-18125600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:18113400-18125400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:18114200-18125400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:18115600-18123200	Weak transcription	Osteobl	bone
25	chr11:18115800-18126000	Weak transcription	Fetal Heart	heart
26	chr11:18116000-18125800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:18116000-18126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:18116000-18127000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:18116200-18123400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:18116200-18123400	Weak transcription	Fetal Intestine Small	intestine
31	chr11:18116200-18126600	Weak transcription	Psoas Muscle	Psoas
32	chr11:18116800-18123400	Weak transcription	NHLF	lung
33	chr11:18116800-18124800	Weak transcription	Pancreas	Pancrea
34	chr11:18117000-18126200	Weak transcription	Gastric	stomach
35	chr11:18117000-18126400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:18117600-18123400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:18117600-18124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:18117600-18124600	Weak transcription	HSMMtube	muscle
39	chr11:18117600-18125400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:18117600-18126000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:18117600-18126000	Weak transcription	Brain Angular Gyrus	brain
42	chr11:18117600-18126000	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:18117600-18126000	Weak transcription	HUVEC	blood vessel
44	chr11:18117600-18126800	Weak transcription	Colonic Mucosa	Colon
45	chr11:18117800-18123200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:18117800-18123600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:18117800-18124600	Weak transcription	HSMM	muscle
48	chr11:18117800-18125800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:18117800-18126000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:18117800-18126200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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