Variant report

Variant	rs12364060
Chromosome Location	chr11:45889775-45889776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45889569-45889856	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45889610-45889812	K562	blood:	n/a	n/a
3	POLR2A	chr11:45889579-45889847	K562	blood:	n/a	n/a
4	POLR2A	chr11:45888627-45890011	K562	blood:	n/a	n/a
5	POLR2A	chr11:45889432-45889867	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45889170..45891293-chr11:45891577..45893200,2	MCF-7	breast:

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10462026	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838526	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038668	0.80[CEU][hapmap]
rs11038670	0.84[CEU][hapmap]
rs11038671	0.85[CEU][hapmap]
rs11038675	0.85[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs11038679	0.84[EUR][1000 genomes]
rs11038680	0.84[EUR][1000 genomes]
rs11038683	0.85[EUR][1000 genomes]
rs11038685	0.85[EUR][1000 genomes]
rs11038686	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038689	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11038700	1.00[ASN][1000 genomes]
rs1401417	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787106	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787136	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4756030	0.82[EUR][1000 genomes]
rs4756032	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923741	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152508	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.84[EUR][1000 genomes]
rs7121775	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72900692	0.85[EUR][1000 genomes]
rs72900694	0.85[EUR][1000 genomes]
rs72902412	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902436	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902439	0.86[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12364060	MAPK8IP1	cis	multi-tissue	Pritchard
rs12364060	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	chr11:45874200-45904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
3	chr11:45875400-45893400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:45875800-45904200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:45876400-45904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:45876800-45894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:45876800-45895600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:45876800-45895600	Strong transcription	Thymus	Thymus
9	chr11:45876800-45900200	Strong transcription	Primary B cells from cord blood	blood
10	chr11:45876800-45903600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:45876800-45904600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:45877000-45893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:45877000-45895600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:45877200-45893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:45877400-45899800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:45877400-45900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:45877400-45903800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:45877400-45904200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:45879200-45901200	Weak transcription	A549	lung
20	chr11:45880000-45903400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr11:45880200-45904600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:45880400-45904200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:45880600-45891000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:45880600-45904600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:45881200-45905200	Strong transcription	Fetal Intestine Large	intestine
26	chr11:45881600-45891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:45881600-45895600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:45881600-45895800	Strong transcription	Fetal Brain Female	brain
29	chr11:45881800-45892000	Weak transcription	HUVEC	blood vessel
30	chr11:45881800-45893600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:45881800-45894200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:45881800-45895600	Strong transcription	Gastric	stomach
33	chr11:45881800-45900200	Strong transcription	Brain Germinal Matrix	brain
34	chr11:45881800-45900400	Strong transcription	Fetal Intestine Small	intestine
35	chr11:45882000-45900000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:45882000-45900200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:45882000-45902000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:45882000-45904800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:45882200-45894200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:45882200-45894400	Strong transcription	Brain Anterior Caudate	brain
41	chr11:45882200-45895000	Strong transcription	Pancreas	Pancrea
42	chr11:45882200-45900000	Strong transcription	Ovary	ovary
43	chr11:45882200-45900200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:45882200-45900400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:45882400-45893800	Strong transcription	Osteobl	bone
46	chr11:45882400-45897600	Strong transcription	Fetal Lung	lung
47	chr11:45882400-45900200	Strong transcription	Spleen	Spleen
48	chr11:45882600-45892000	Weak transcription	Psoas Muscle	Psoas
49	chr11:45882600-45893400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:45882600-45893400	Strong transcription	NHDF-Ad	bronchial

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