Variant report

Variant	rs72900638
Chromosome Location	chr11:45840326-45840327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45837750..45841192-chr11:45868831..45870857,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10462026	0.92[EUR][1000 genomes]
rs10838519	0.84[EUR][1000 genomes]
rs10838526	0.90[EUR][1000 genomes]
rs11038668	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038670	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038671	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038675	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038680	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038683	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038685	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038686	0.92[EUR][1000 genomes]
rs11038689	0.92[EUR][1000 genomes]
rs11038703	0.80[EUR][1000 genomes]
rs1401417	0.92[EUR][1000 genomes]
rs17787106	0.91[EUR][1000 genomes]
rs17787136	0.83[EUR][1000 genomes]
rs4756029	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756030	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756032	0.92[EUR][1000 genomes]
rs4756036	0.92[EUR][1000 genomes]
rs55923741	0.92[EUR][1000 genomes]
rs56152508	0.92[EUR][1000 genomes]
rs56330140	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7121775	0.92[EUR][1000 genomes]
rs7123390	0.80[EUR][1000 genomes]
rs72900650	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72900652	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72900692	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72900694	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72902412	0.92[EUR][1000 genomes]
rs72902436	0.92[EUR][1000 genomes]
rs72902439	0.91[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	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
rs72900638	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45833600-45848000	Weak transcription	Right Ventricle	heart
2	chr11:45833800-45841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:45833800-45845400	Weak transcription	Ovary	ovary
4	chr11:45833800-45850000	Weak transcription	Brain Angular Gyrus	brain
5	chr11:45834000-45845400	Weak transcription	Fetal Intestine Large	intestine
6	chr11:45834000-45845400	Weak transcription	Left Ventricle	heart
7	chr11:45834400-45845000	Weak transcription	Fetal Lung	lung
8	chr11:45834400-45845400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:45834400-45845600	Weak transcription	Gastric	stomach
10	chr11:45834600-45845400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:45834600-45845400	Weak transcription	Lung	lung
12	chr11:45835000-45843200	Weak transcription	K562	blood
13	chr11:45835000-45844600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:45835000-45845400	Weak transcription	Dnd41	blood
15	chr11:45837600-45845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:45837600-45845400	Weak transcription	Fetal Kidney	kidney
17	chr11:45837600-45848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:45838000-45845400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:45838200-45841200	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:45838400-45841200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:45838600-45840800	Enhancers	Primary B cells from cord blood	blood
22	chr11:45839600-45840600	Enhancers	Fetal Heart	heart
23	chr11:45839600-45840800	Enhancers	Placenta	Placenta
24	chr11:45840200-45841000	Enhancers	GM12878-XiMat	blood

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