Variant report

Variant	rs11024489
Chromosome Location	chr11:18123903-18123904
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	chr11:18013568..18016521-chr11:18123869..18126063,2	K562	blood:
3	chr11:18123661..18126675-chr11:18127430..18129709,3	K562	blood:
4	chr11:18121947..18124266-chr11:18125749..18127419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166788	Chromatin interaction
ENSG00000255254	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10500831	0.90[ASN][1000 genomes]
rs10832881	0.83[ASN][1000 genomes]
rs10832882	0.90[ASN][1000 genomes]
rs11024467	0.86[ASN][1000 genomes]
rs11024468	0.90[ASN][1000 genomes]
rs11024469	0.86[ASN][1000 genomes]
rs11024470	0.83[ASN][1000 genomes]
rs11024472	0.86[ASN][1000 genomes]
rs11024474	0.86[ASN][1000 genomes]
rs11024475	0.86[ASN][1000 genomes]
rs11024476	0.90[ASN][1000 genomes]
rs11024477	0.83[ASN][1000 genomes]
rs11024478	0.86[ASN][1000 genomes]
rs11024480	0.86[ASN][1000 genomes]
rs11024482	0.88[ASN][1000 genomes]
rs11024484	0.90[ASN][1000 genomes]
rs11024487	0.86[ASN][1000 genomes]
rs11024488	0.86[ASN][1000 genomes]
rs11024491	0.82[ASN][1000 genomes]
rs11024492	0.82[ASN][1000 genomes]
rs11024493	0.88[ASN][1000 genomes]
rs12360537	0.85[ASN][1000 genomes]
rs12363226	0.90[ASN][1000 genomes]
rs12364327	0.90[ASN][1000 genomes]
rs12365158	0.86[ASN][1000 genomes]
rs12365751	0.86[ASN][1000 genomes]
rs1399025	0.83[ASN][1000 genomes]
rs1980096	0.83[ASN][1000 genomes]
rs1980097	0.86[ASN][1000 genomes]
rs2168361	0.86[ASN][1000 genomes]
rs2271533	0.86[ASN][1000 genomes]
rs3741199	0.86[ASN][1000 genomes]
rs4052539	0.86[ASN][1000 genomes]
rs4756930	0.86[ASN][1000 genomes]
rs4757613	0.86[ASN][1000 genomes]
rs56001925	0.86[ASN][1000 genomes]
rs5790015	0.90[ASN][1000 genomes]
rs61882529	0.86[ASN][1000 genomes]
rs61882530	0.90[ASN][1000 genomes]
rs7102017	0.86[ASN][1000 genomes]
rs7103885	0.83[ASN][1000 genomes]
rs7104168	0.83[ASN][1000 genomes]
rs7104856	0.83[ASN][1000 genomes]
rs7113855	0.82[ASN][1000 genomes]
rs7118250	0.86[ASN][1000 genomes]
rs7119063	0.86[ASN][1000 genomes]
rs7129345	0.82[ASN][1000 genomes]
rs7131255	0.90[ASN][1000 genomes]
rs7131454	0.90[ASN][1000 genomes]
rs7931522	0.83[ASN][1000 genomes]
rs7933259	0.81[ASN][1000 genomes]
rs7934091	0.90[ASN][1000 genomes]
rs7936878	0.86[ASN][1000 genomes]
rs7943725	0.81[ASN][1000 genomes]
rs871699	0.82[ASN][1000 genomes]
rs907922	0.82[ASN][1000 genomes]
rs907923	0.88[ASN][1000 genomes]
rs964833	0.86[ASN][1000 genomes]
rs964834	0.86[ASN][1000 genomes]
rs964835	0.86[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11024489	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024489	SAAL1	cis	Artery Tibial	GTEx
rs11024489	SAAL1	cis	lung	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	chr11:18111000-18126600	Weak transcription	Right Ventricle	heart
19	chr11:18111200-18125200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:18113000-18125600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:18113400-18125400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:18114200-18125400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:18115800-18126000	Weak transcription	Fetal Heart	heart
24	chr11:18116000-18125800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:18116000-18126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:18116000-18127000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:18116200-18126600	Weak transcription	Psoas Muscle	Psoas
28	chr11:18116800-18124800	Weak transcription	Pancreas	Pancrea
29	chr11:18117000-18126200	Weak transcription	Gastric	stomach
30	chr11:18117000-18126400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:18117600-18124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:18117600-18124600	Weak transcription	HSMMtube	muscle
33	chr11:18117600-18125400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:18117600-18126000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:18117600-18126000	Weak transcription	Brain Angular Gyrus	brain
36	chr11:18117600-18126000	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:18117600-18126000	Weak transcription	HUVEC	blood vessel
38	chr11:18117600-18126800	Weak transcription	Colonic Mucosa	Colon
39	chr11:18117800-18124600	Weak transcription	HSMM	muscle
40	chr11:18117800-18125800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:18117800-18126000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:18117800-18126200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:18118200-18126200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:18118200-18126400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:18118200-18126800	Weak transcription	Esophagus	oesophagus
46	chr11:18118600-18126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:18118800-18125200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:18119200-18124600	Weak transcription	Hela-S3	cervix
49	chr11:18119200-18124600	Weak transcription	HepG2	liver
50	chr11:18119400-18125200	Strong transcription	Primary hematopoietic stem cells	blood

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