Variant report

Variant	rs4756032
Chromosome Location	chr11:45870743-45870744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
2	chr11:45869438..45872196-chr11:45903876..45906831,3	K562	blood:
3	chr11:45869749..45872196-chr11:45903148..45905376,2	K562	blood:
4	chr11:45869552..45871506-chr11:46003139..46005373,2	K562	blood:
5	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
6	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
7	chr11:45859074..45860991-chr11:45869177..45870852,2	MCF-7	breast:
8	chr11:45869428..45871022-chr11:45916050..45918387,2	MCF-7	breast:
9	chr11:45847212..45849516-chr11:45869124..45870868,2	K562	blood:
10	chr11:45854327..45856053-chr11:45869325..45871424,2	K562	blood:
11	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:
12	chr11:45870732..45872515-chr11:45938481..45940935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181830	Chromatin interaction
ENSG00000121653	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000165905	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];1.00[ASN][1000 genomes]
rs10838526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038699	1.00[ASN][1000 genomes]
rs11038700	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401417	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787106	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787136	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756030	0.95[EUR][1000 genomes]
rs4756036	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923741	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.98[EUR][1000 genomes]
rs7121775	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123390	0.86[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs72902436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902439	0.97[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
rs4756032	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45868400-45871200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:45869600-45870800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:45869600-45870800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:45869600-45871000	Flanking Active TSS	Brain Substantia Nigra	brain
5	chr11:45869600-45871000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr11:45869600-45871000	Flanking Active TSS	Dnd41	blood
7	chr11:45869600-45871200	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:45869800-45870800	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr11:45869800-45870800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr11:45869800-45870800	Flanking Active TSS	NHLF	lung
11	chr11:45869800-45871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:45869800-45871000	Flanking Active TSS	Fetal Brain Male	brain
13	chr11:45869800-45871200	Enhancers	Small Intestine	intestine
14	chr11:45869800-45871200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:45869800-45871200	Enhancers	Spleen	Spleen
16	chr11:45869800-45872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:45869800-45873000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:45869800-45873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:45869800-45874000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:45870000-45870800	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:45870000-45870800	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr11:45870000-45871000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:45870000-45871000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:45870000-45871000	Flanking Active TSS	Fetal Lung	lung
26	chr11:45870000-45871000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:45870000-45871000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:45870000-45871000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:45870000-45871000	Flanking Active TSS	HepG2	liver
30	chr11:45870000-45871200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:45870000-45873200	Flanking Active TSS	Liver	Liver
32	chr11:45870200-45870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:45870200-45870800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr11:45870200-45870800	Flanking Active TSS	Fetal Heart	heart
35	chr11:45870200-45870800	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr11:45870200-45870800	Flanking Active TSS	Right Atrium	heart
37	chr11:45870200-45870800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:45870200-45870800	Flanking Active TSS	Stomach Mucosa	stomach
39	chr11:45870200-45871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:45870200-45871000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:45870200-45871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:45870200-45871000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:45870200-45871000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:45870200-45871000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:45870200-45871600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:45870200-45871800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr11:45870200-45872800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:45870200-45875200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:45870400-45870800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:45870400-45870800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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