Variant report

Variant	rs11038689
Chromosome Location	chr11:45874264-45874265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
2	chr11:45872396..45874327-chr11:45903903..45905625,2	K562	blood:
3	chr11:45872954..45875502-chr11:45891809..45894357,2	K562	blood:
4	chr11:45792871..45793438-chr11:45873600..45874350,2	K562	blood:
5	chr11:45873444..45876329-chr4:74608235..74610589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205106	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10462026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838519	0.81[CEU][hapmap]
rs10838526	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038668	0.90[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs11038670	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs11038671	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs11038675	0.95[CEU][hapmap];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038699	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs11038700	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038703	0.83[EUR][1000 genomes]
rs12364060	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787106	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787136	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756026	0.89[TSI][hapmap]
rs4756030	0.95[EUR][1000 genomes]
rs4756032	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923741	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330140	0.98[EUR][1000 genomes]
rs7121775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123390	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902439	0.86[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11038689	MAPK8IP1	cis	Whole Blood	GTEx
rs11038689	MAPK8IP1	cis	multi-tissue	Pritchard
rs11038689	OR4C45	cis	cerebellum	SCAN
rs11038689	CRY2	cis	cerebellum	SCAN

Chromatin state (count:126 , 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	chr11:45870200-45875200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:45870400-45875400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:45870400-45875600	Genic enhancers	Fetal Muscle Leg	muscle
5	chr11:45870400-45876400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:45870400-45878600	Weak transcription	HUVEC	blood vessel
7	chr11:45870600-45875200	Weak transcription	Thymus	Thymus
8	chr11:45870600-45876600	Weak transcription	Fetal Thymus	thymus
9	chr11:45870600-45877000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:45870600-45877200	Enhancers	Left Ventricle	heart
11	chr11:45870600-45877400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:45870600-45877400	Weak transcription	Hela-S3	cervix
13	chr11:45870600-45877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:45870600-45878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:45870600-45879800	Weak transcription	Esophagus	oesophagus
16	chr11:45870800-45876800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:45870800-45876800	Weak transcription	Brain Germinal Matrix	brain
18	chr11:45870800-45877000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:45870800-45877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:45870800-45880800	Weak transcription	HMEC	breast
21	chr11:45871000-45874600	Enhancers	NHDF-Ad	bronchial
22	chr11:45871000-45875000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:45871000-45877000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:45871000-45877000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:45871000-45877600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:45871000-45878600	Weak transcription	Fetal Kidney	kidney
27	chr11:45871200-45875400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:45871200-45875800	Enhancers	Psoas Muscle	Psoas
29	chr11:45871600-45874400	Enhancers	Spleen	Spleen
30	chr11:45871600-45875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:45871600-45875200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:45871600-45876600	Enhancers	Brain Anterior Caudate	brain
33	chr11:45871800-45875200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:45872000-45875000	Enhancers	Colon Smooth Muscle	Colon
35	chr11:45872200-45877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:45872200-45877600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:45872400-45875200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:45872400-45875400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:45872400-45876000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:45872400-45876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:45872400-45877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:45872400-45877000	Weak transcription	Fetal Lung	lung
43	chr11:45872400-45877000	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:45872400-45877000	Weak transcription	Dnd41	blood
45	chr11:45872400-45877000	Weak transcription	K562	blood
46	chr11:45872400-45877000	Weak transcription	NHLF	lung
47	chr11:45872400-45877200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:45872400-45877400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:45872400-45877400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:45872400-45877600	Weak transcription	Muscle Satellite Cultured Cells	--

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