Variant report

Variant	rs56152508
Chromosome Location	chr11:45865868-45865869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:45865732-45865913	HepG2	liver:	n/a	n/a
2	MAFF	chr11:45865367-45865869	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45864486..45866793-chr11:45867171..45870088,4	K562	blood:
2	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
3	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:
4	chr11:45817744..45819460-chr11:45865438..45867718,2	K562	blood:
5	chr11:45864922..45867381-chr11:46128289..46130207,2	K562	blood:
6	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
7	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
8	chr11:45850331..45852679-chr11:45862063..45866263,3	K562	blood:

No data

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000181830	Chromatin interaction
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];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838526	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038668	0.90[EUR][1000 genomes]
rs11038670	0.92[EUR][1000 genomes]
rs11038671	0.92[EUR][1000 genomes]
rs11038675	0.93[EUR][1000 genomes]
rs11038679	0.98[EUR][1000 genomes]
rs11038680	0.98[EUR][1000 genomes]
rs11038683	0.98[EUR][1000 genomes]
rs11038685	0.98[EUR][1000 genomes]
rs11038686	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11038689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038699	0.95[ASN][1000 genomes]
rs11038700	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1401417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17787106	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17787136	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756030	0.95[EUR][1000 genomes]
rs4756032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756036	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55923741	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.98[EUR][1000 genomes]
rs7121775	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123390	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72900638	0.92[EUR][1000 genomes]
rs72900650	0.92[EUR][1000 genomes]
rs72900652	0.92[EUR][1000 genomes]
rs72900692	0.98[EUR][1000 genomes]
rs72900694	0.98[EUR][1000 genomes]
rs72902412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902436	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902439	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs877412	0.80[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
rs56152508	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45864600-45866000	Enhancers	Fetal Intestine Large	intestine
4	chr11:45865200-45867600	Weak transcription	Psoas Muscle	Psoas
5	chr11:45865200-45867600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:45865200-45867800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:45865200-45867800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:45865200-45867800	Weak transcription	Brain Angular Gyrus	brain
9	chr11:45865200-45867800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:45865200-45867800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:45865200-45867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:45865200-45867800	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:45865200-45867800	Weak transcription	Placenta	Placenta
14	chr11:45865200-45867800	Weak transcription	Ovary	ovary
15	chr11:45865200-45867800	Weak transcription	NHDF-Ad	bronchial
16	chr11:45865200-45868000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:45865200-45868000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:45865200-45868000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:45865200-45868000	Weak transcription	Brain Germinal Matrix	brain
20	chr11:45865200-45868000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:45865200-45868000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:45865200-45868000	Weak transcription	Fetal Lung	lung
23	chr11:45865200-45868000	Weak transcription	Fetal Stomach	stomach
24	chr11:45865200-45868000	Weak transcription	HSMMtube	muscle
25	chr11:45865200-45868200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:45865200-45868200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:45865200-45868200	Weak transcription	Colonic Mucosa	Colon
28	chr11:45865200-45868200	Weak transcription	HMEC	breast
29	chr11:45865200-45868400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:45865200-45868400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:45865200-45868400	Weak transcription	Stomach Mucosa	stomach
32	chr11:45865200-45869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:45865400-45866000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:45865400-45866600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:45865400-45866800	Weak transcription	Adipose Nuclei	Adipose
36	chr11:45865400-45867400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:45865400-45867600	Weak transcription	K562	blood
38	chr11:45865400-45867800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:45865400-45867800	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:45865400-45867800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:45865400-45867800	Weak transcription	Fetal Heart	heart
42	chr11:45865400-45867800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:45865400-45867800	Weak transcription	NHLF	lung
44	chr11:45865400-45868000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:45865400-45868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:45865400-45868000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:45865400-45868000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:45865400-45868000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:45865400-45868000	Weak transcription	Dnd41	blood
50	chr11:45865400-45868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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