Variant report

Variant	rs4756030
Chromosome Location	chr11:45856053-45856054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45854327..45856053-chr11:45869325..45871424,2	K562	blood:
2	chr11:45824552..45827544-chr11:45855388..45857462,2	MCF-7	breast:
3	chr11:45851162..45853664-chr11:45855593..45858334,2	K562	blood:

Variant related genes	Relation type
ENSG00000181830	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	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10838519	0.81[EUR][1000 genomes]
rs10838526	0.93[EUR][1000 genomes]
rs11038668	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038670	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038671	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038675	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038679	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038680	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038683	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11038686	0.95[EUR][1000 genomes]
rs11038689	0.95[EUR][1000 genomes]
rs11038700	0.81[EUR][1000 genomes]
rs11038703	0.80[EUR][1000 genomes]
rs12364060	0.82[EUR][1000 genomes]
rs1401417	0.95[EUR][1000 genomes]
rs17787106	0.94[EUR][1000 genomes]
rs17787136	0.86[EUR][1000 genomes]
rs4756029	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4756032	0.95[EUR][1000 genomes]
rs4756036	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55923741	0.92[EUR][1000 genomes]
rs56152508	0.95[EUR][1000 genomes]
rs56330140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7121775	0.95[EUR][1000 genomes]
rs7123390	0.83[EUR][1000 genomes]
rs72900638	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72900650	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72900652	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72900692	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72900694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72902412	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72902436	0.95[EUR][1000 genomes]
rs72902439	0.94[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
rs4756030	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45854000-45856400	Enhancers	Placenta	Placenta
3	chr11:45854400-45856400	Flanking Active TSS	Dnd41	blood
4	chr11:45854600-45856400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:45854800-45856600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:45855200-45856200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:45855200-45856400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:45855200-45856400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:45855200-45856400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:45855400-45856400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:45855400-45856400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:45855400-45856400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:45855400-45856400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:45855400-45856400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:45855800-45856200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:45855800-45856200	Enhancers	Gastric	stomach
17	chr11:45855800-45856200	Enhancers	Left Ventricle	heart
18	chr11:45855800-45856200	Enhancers	Ovary	ovary
19	chr11:45855800-45856400	Enhancers	Primary T cells from cord blood	blood
20	chr11:45855800-45856400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:45855800-45856400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:45855800-45856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:45855800-45856400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:45855800-45856400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:45855800-45856400	Enhancers	Adipose Nuclei	Adipose
26	chr11:45855800-45856400	Enhancers	Liver	Liver
27	chr11:45855800-45856400	Flanking Active TSS	K562	blood
28	chr11:45856000-45856200	Enhancers	Lung	lung
29	chr11:45856000-45856200	Enhancers	Skeletal Muscle Male	skeletal muscle

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