Variant report

Variant	rs2279047
Chromosome Location	chr11:86198107-86198108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86196082..86198176-chr11:86220436..86222457,2	MCF-7	breast:
2	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:
3	chr11:86195419..86198314-chr11:86202318..86204209,2	K562	blood:
4	chr11:86197644..86200072-chr11:86202329..86204478,2	MCF-7	breast:
5	chr11:86196494..86198904-chr11:86208751..86212167,3	MCF-7	breast:
6	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:
7	chr11:86169610..86171633-chr11:86195084..86198492,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10466700	1.00[ASN][1000 genomes]
rs10466729	1.00[ASN][1000 genomes]
rs10466730	1.00[ASN][1000 genomes]
rs10898496	0.84[JPT][hapmap]
rs11234647	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs11234648	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs11820048	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11824889	1.00[ASN][1000 genomes]
rs11828146	1.00[ASN][1000 genomes]
rs11828283	1.00[ASN][1000 genomes]
rs12270471	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12270761	1.00[ASN][1000 genomes]
rs12270790	0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs12272259	0.83[ASN][1000 genomes]
rs12276248	1.00[ASN][1000 genomes]
rs12277432	1.00[ASN][1000 genomes]
rs12278247	1.00[ASN][1000 genomes]
rs12280555	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12280833	0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs12281645	1.00[ASN][1000 genomes]
rs12283035	1.00[ASN][1000 genomes]
rs12285249	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12288560	1.00[ASN][1000 genomes]
rs12289817	1.00[ASN][1000 genomes]
rs12291532	1.00[ASN][1000 genomes]
rs12292316	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12293159	1.00[ASN][1000 genomes]
rs12293545	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12294756	1.00[ASN][1000 genomes]
rs12804130	1.00[ASN][1000 genomes]
rs12804407	1.00[ASN][1000 genomes]
rs12805940	1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[ASN][1000 genomes]
rs1452136	1.00[ASN][1000 genomes]
rs1452137	1.00[ASN][1000 genomes]
rs1458381	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs17149063	1.00[ASN][1000 genomes]
rs17149064	0.85[JPT][hapmap]
rs17819176	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2242142	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs34416639	1.00[ASN][1000 genomes]
rs34939684	1.00[ASN][1000 genomes]
rs35686713	1.00[ASN][1000 genomes]
rs3741001	1.00[ASN][1000 genomes]
rs3741002	0.86[ASN][1000 genomes]
rs3741003	1.00[ASN][1000 genomes]
rs3781806	1.00[ASN][1000 genomes]
rs3781813	1.00[ASN][1000 genomes]
rs3824953	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009909	1.00[ASN][1000 genomes]
rs58228993	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58354189	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66833360	1.00[ASN][1000 genomes]
rs66872826	1.00[ASN][1000 genomes]
rs7106523	1.00[CEU][hapmap]
rs7107941	1.00[ASN][1000 genomes]
rs7122296	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs7122406	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs7129977	1.00[ASN][1000 genomes]
rs72953614	1.00[ASN][1000 genomes]
rs7924368	1.00[CEU][hapmap]
rs7932664	0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs7948566	1.00[ASN][1000 genomes]
rs7948764	1.00[ASN][1000 genomes]
rs7951433	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
9	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86192000-86198200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:86192200-86198600	Enhancers	NHDF-Ad	bronchial
16	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:86192400-86198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
19	chr11:86195000-86203200	Enhancers	Fetal Brain Male	brain
20	chr11:86195200-86201200	Weak transcription	Spleen	Spleen
21	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
22	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:86195600-86202800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:86195600-86203600	Weak transcription	Aorta	Aorta
25	chr11:86195800-86206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:86196000-86203000	Weak transcription	Left Ventricle	heart
27	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:86196400-86198800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:86196400-86201800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:86196600-86198400	Enhancers	Fetal Brain Female	brain
34	chr11:86196600-86199400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:86196600-86199600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:86196600-86199800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:86196600-86201800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:86196600-86203600	Weak transcription	Ovary	ovary
39	chr11:86196600-86208200	Weak transcription	Osteobl	bone
40	chr11:86196800-86198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:86196800-86198600	Strong transcription	Fetal Intestine Small	intestine
42	chr11:86196800-86199000	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:86196800-86199800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:86197000-86198600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:86197000-86198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:86197000-86198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:86197000-86199600	Weak transcription	Stomach Mucosa	stomach
49	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86197600-86198200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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