Variant report

Variant	rs4756036
Chromosome Location	chr11:45878070-45878071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:
2	chr11:45876957..45879799-chr11:46142347..46144267,2	MCF-7	breast:
3	chr11:45877056..45879214-chr5:147116551..147119032,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction
ENSG00000135365	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838526	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038668	0.90[EUR][1000 genomes]
rs11038670	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11038671	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11038675	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038679	0.98[EUR][1000 genomes]
rs11038680	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038683	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038685	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038686	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11038700	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787106	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756030	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4756032	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923741	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152508	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7121775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900638	0.92[EUR][1000 genomes]
rs72900650	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72900652	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72900692	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72900694	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72902412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902436	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902439	0.95[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
rs4756036	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45870400-45878600	Weak transcription	HUVEC	blood vessel
3	chr11:45870600-45878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:45870600-45879800	Weak transcription	Esophagus	oesophagus
5	chr11:45870800-45880800	Weak transcription	HMEC	breast
6	chr11:45871000-45878600	Weak transcription	Fetal Kidney	kidney
7	chr11:45872400-45878400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:45872400-45878400	Weak transcription	NHEK	skin
9	chr11:45872600-45878600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:45872600-45878600	Weak transcription	HSMMtube	muscle
11	chr11:45872600-45878800	Weak transcription	HSMM	muscle
12	chr11:45872600-45880200	Weak transcription	Aorta	Aorta
13	chr11:45872800-45878600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:45872800-45879000	Weak transcription	NH-A	brain
15	chr11:45873800-45879400	Strong transcription	Fetal Intestine Small	intestine
16	chr11:45874000-45878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:45874200-45878600	Weak transcription	Colonic Mucosa	Colon
18	chr11:45874200-45878600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:45874200-45904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:45874600-45880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:45874600-45880000	Weak transcription	Small Intestine	intestine
22	chr11:45874800-45878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:45875200-45878600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:45875200-45878800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:45875200-45882600	Genic enhancers	Liver	Liver
26	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:45875400-45893400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:45875800-45878600	Weak transcription	Stomach Mucosa	stomach
29	chr11:45875800-45904200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:45876400-45904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:45876600-45878400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:45876600-45878400	Enhancers	NHDF-Ad	bronchial
33	chr11:45876600-45878600	Strong transcription	Fetal Intestine Large	intestine
34	chr11:45876600-45879400	Strong transcription	Fetal Thymus	thymus
35	chr11:45876600-45879600	Genic enhancers	Brain Anterior Caudate	brain
36	chr11:45876600-45882600	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr11:45876600-45882600	Enhancers	Right Atrium	heart
38	chr11:45876800-45878400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:45876800-45878400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:45876800-45878400	Strong transcription	Spleen	Spleen
41	chr11:45876800-45878600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:45876800-45878600	Strong transcription	Ovary	ovary
43	chr11:45876800-45878800	Genic enhancers	Brain Substantia Nigra	brain
44	chr11:45876800-45879400	Strong transcription	Brain Germinal Matrix	brain
45	chr11:45876800-45879800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:45876800-45881800	Enhancers	Right Ventricle	heart
47	chr11:45876800-45882600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr11:45876800-45882600	Genic enhancers	Fetal Stomach	stomach
49	chr11:45876800-45894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:45876800-45895600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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