Variant report

Variant	rs72902439
Chromosome Location	chr11:45883268-45883269
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45880394..45882824-chr11:45883055..45886463,3	MCF-7	breast:
2	chr11:45883027..45884736-chr11:46029523..46031223,2	K562	blood:
3	chr11:45880518..45884528-chr11:45890317..45893534,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10462026	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038668	0.89[EUR][1000 genomes]
rs11038670	0.91[EUR][1000 genomes]
rs11038671	0.91[EUR][1000 genomes]
rs11038675	0.92[EUR][1000 genomes]
rs11038679	0.97[EUR][1000 genomes]
rs11038680	0.97[EUR][1000 genomes]
rs11038683	0.98[EUR][1000 genomes]
rs11038685	0.98[EUR][1000 genomes]
rs11038686	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038689	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038699	1.00[ASN][1000 genomes]
rs11038700	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787106	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787136	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756030	0.94[EUR][1000 genomes]
rs4756032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756036	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923741	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152508	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.97[EUR][1000 genomes]
rs7121775	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123390	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900638	0.91[EUR][1000 genomes]
rs72900650	0.91[EUR][1000 genomes]
rs72900652	0.91[EUR][1000 genomes]
rs72900692	0.98[EUR][1000 genomes]
rs72900694	0.98[EUR][1000 genomes]
rs72902412	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902436	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877412	0.85[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72902439	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45874200-45904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
4	chr11:45875400-45893400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:45875800-45904200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr11:45876400-45904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:45876800-45894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:45876800-45895600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:45876800-45895600	Strong transcription	Thymus	Thymus
10	chr11:45876800-45900200	Strong transcription	Primary B cells from cord blood	blood
11	chr11:45876800-45903600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:45876800-45904600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:45877000-45885800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:45877000-45885800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:45877000-45885800	Strong transcription	Dnd41	blood
16	chr11:45877000-45885800	Strong transcription	GM12878-XiMat	blood
17	chr11:45877000-45885800	Strong transcription	K562	blood
18	chr11:45877000-45886000	Strong transcription	HepG2	liver
19	chr11:45877000-45893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:45877000-45895600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:45877200-45883800	Genic enhancers	Left Ventricle	heart
22	chr11:45877200-45886000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:45877200-45893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:45877400-45887200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr11:45877400-45899800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:45877400-45900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:45877400-45903800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:45877400-45904200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:45878600-45885800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:45878600-45888200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:45879200-45901200	Weak transcription	A549	lung
32	chr11:45879400-45883800	Genic enhancers	Placenta	Placenta
33	chr11:45880000-45903400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr11:45880200-45904600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:45880400-45904200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:45880600-45891000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:45880600-45904600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:45880800-45883400	Weak transcription	Hela-S3	cervix
39	chr11:45881200-45905200	Strong transcription	Fetal Intestine Large	intestine
40	chr11:45881400-45886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:45881600-45883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:45881600-45883600	Weak transcription	Fetal Brain Male	brain
43	chr11:45881600-45883800	Genic enhancers	Fetal Heart	heart
44	chr11:45881600-45886200	Strong transcription	Fetal Thymus	thymus
45	chr11:45881600-45887800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:45881600-45891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:45881600-45895600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:45881600-45895800	Strong transcription	Fetal Brain Female	brain
49	chr11:45881800-45883400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:45881800-45883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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