Variant report

Variant	rs72900652
Chromosome Location	chr11:45845740-45845741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45845122..45847202-chr11:45850154..45851796,2	MCF-7	breast:
2	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
3	chr11:45844416..45847085-chr11:45867147..45869088,2	K562	blood:
4	chr11:45845665..45849726-chr11:45853081..45856050,3	K562	blood:

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	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10838519	0.84[EUR][1000 genomes]
rs10838526	0.90[EUR][1000 genomes]
rs11038668	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038679	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038683	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038685	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4756030	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4756032	0.92[EUR][1000 genomes]
rs4756036	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55923741	0.92[EUR][1000 genomes]
rs56152508	0.92[EUR][1000 genomes]
rs56330140	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121775	0.92[EUR][1000 genomes]
rs7123390	0.80[EUR][1000 genomes]
rs72900638	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72900650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72900694	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72902412	0.81[AMR][1000 genomes];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
rs72900652	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45833600-45848000	Weak transcription	Right Ventricle	heart
2	chr11:45833800-45850000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:45837600-45848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:45843200-45845800	Enhancers	K562	blood
5	chr11:45843200-45846000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:45843400-45846600	Enhancers	Placenta	Placenta
7	chr11:45844800-45845800	Enhancers	Fetal Heart	heart
8	chr11:45844800-45846000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:45845000-45845800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:45845000-45845800	Enhancers	Fetal Lung	lung
11	chr11:45845000-45845800	Enhancers	HSMMtube	muscle
12	chr11:45845200-45845800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:45845200-45845800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:45845200-45846000	Enhancers	Fetal Intestine Small	intestine
15	chr11:45845400-45845800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:45845400-45845800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:45845400-45845800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:45845400-45845800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:45845400-45845800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:45845400-45845800	Enhancers	Fetal Kidney	kidney
21	chr11:45845400-45845800	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:45845400-45845800	Enhancers	Left Ventricle	heart
23	chr11:45845400-45845800	Enhancers	Lung	lung
24	chr11:45845400-45845800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:45845400-45845800	Enhancers	Dnd41	blood
26	chr11:45845400-45845800	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:45845400-45846000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:45845400-45846000	Enhancers	Fetal Intestine Large	intestine
29	chr11:45845400-45846000	Enhancers	Ovary	ovary
30	chr11:45845600-45845800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:45845600-45845800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:45845600-45845800	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:45845600-45845800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:45845600-45845800	Enhancers	Gastric	stomach
35	chr11:45845600-45845800	Enhancers	Right Atrium	heart
36	chr11:45845600-45847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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