Variant report

Variant	rs11234926
Chromosome Location	chr11:86750775-86750776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:
2	chr11:86741218..86743533-chr11:86749277..86751879,2	MCF-7	breast:
3	chr11:86749278..86752197-chr11:86764776..86767404,2	K562	blood:
4	chr11:86665343..86667808-chr11:86749695..86751582,2	K562	blood:

Variant related genes	Relation type
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11234908	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234913	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234914	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234915	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234916	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234920	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11234921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234927	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234931	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234934	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234935	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234936	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234949	0.84[ASN][1000 genomes]
rs12270428	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12272440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273779	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12274647	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286127	0.89[EUR][1000 genomes]
rs12289216	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12289267	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12289978	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12294843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377595	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17820632	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41376049	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55724663	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56028118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117749	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57933396	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61119044	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61906164	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61906166	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61906167	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61906170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61906173	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61906192	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61906193	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61906194	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61906203	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61906207	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7947757	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86748000-86750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:86748200-86750800	Active TSS	Psoas Muscle	Psoas
4	chr11:86748200-86751000	Active TSS	Ovary	ovary
5	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:86748400-86751200	Active TSS	Aorta	Aorta
8	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:86748600-86750800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:86748600-86751000	Active TSS	NHLF	lung
12	chr11:86749000-86751000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86749200-86751400	Active TSS	Right Atrium	heart
14	chr11:86749400-86752200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr11:86749600-86750800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:86749600-86750800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:86749600-86750800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:86749600-86750800	Flanking Active TSS	Fetal Brain Female	brain
19	chr11:86749600-86750800	Flanking Active TSS	HUVEC	blood vessel
20	chr11:86749600-86751000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:86749600-86751200	Active TSS	HepG2	liver
22	chr11:86749600-86751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:86749800-86750800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:86749800-86750800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:86749800-86750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:86749800-86750800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:86749800-86750800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:86749800-86750800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:86749800-86750800	Flanking Active TSS	Hela-S3	cervix
33	chr11:86749800-86751000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:86749800-86751200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:86749800-86751400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:86749800-86751400	Flanking Active TSS	Dnd41	blood
37	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:86750000-86750800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:86750000-86750800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:86750000-86750800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:86750000-86750800	Enhancers	Fetal Muscle Leg	muscle
42	chr11:86750000-86751000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:86750000-86751000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:86750000-86751000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:86750000-86751000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:86750000-86751000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:86750000-86751000	Enhancers	Brain Germinal Matrix	brain
48	chr11:86750000-86751200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:86750000-86751200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:86750000-86751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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