Variant report

Variant	rs12418567
Chromosome Location	chr11:65477963-65477964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
2	chr11:65419108..65420817-chr11:65475348..65477969,2	MCF-7	breast:
3	chr11:65474484..65476042-chr11:65477819..65479417,2	K562	blood:
4	chr11:65477796..65479455-chr11:65581611..65583170,2	K562	blood:
5	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
6	chr11:65477911..65483635-chr11:65545629..65549670,11	K562	blood:
7	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
8	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
9	chr11:65477923..65479953-chr11:65556662..65559648,2	K562	blood:
10	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
11	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
12	chr11:65474304..65478106-chr11:65478345..65481541,4	MCF-7	breast:
13	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
14	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
15	chr11:65477746..65479994-chr11:65651413..65653781,3	K562	blood:
16	chr11:65477139..65479296-chr11:65581106..65583170,2	K562	blood:
17	chr11:65471574..65474478-chr11:65475750..65478986,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175602	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000255120	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11227247	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417989	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418630	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418683	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12419110	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420405	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420618	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421691	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1962691	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1963977	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075660	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2127510	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236683	0.97[EUR][1000 genomes]
rs2306365	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35927673	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36028748	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36091060	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36113281	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741378	0.81[EUR][1000 genomes]
rs4578394	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4645916	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645917	0.90[EUR][1000 genomes]
rs4930158	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930299	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55758897	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56115979	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56236098	0.81[EUR][1000 genomes]
rs7101916	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107503	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119750	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122081	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122098	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65468200-65478600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:65474200-65478000	Weak transcription	Dnd41	blood
3	chr11:65474200-65478400	Weak transcription	Colonic Mucosa	Colon
4	chr11:65474200-65478400	Weak transcription	Fetal Brain Female	brain
5	chr11:65474200-65478400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:65474200-65478600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:65474200-65478600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:65474200-65478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65474200-65478600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:65474200-65478600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:65474200-65478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:65474200-65478600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:65474200-65478600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:65474200-65478600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:65474200-65478600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:65474200-65478600	Weak transcription	GM12878-XiMat	blood
17	chr11:65474400-65478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:65474400-65478600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:65474400-65478600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:65474400-65478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:65474400-65478600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:65474800-65478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:65475000-65478400	Weak transcription	Fetal Thymus	thymus
26	chr11:65475000-65478600	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:65476000-65478000	Weak transcription	A549	lung
28	chr11:65476200-65478800	Enhancers	Placenta	Placenta
29	chr11:65476400-65478800	Enhancers	Fetal Intestine Large	intestine
30	chr11:65476800-65478800	Enhancers	K562	blood
31	chr11:65477000-65478800	Enhancers	Fetal Intestine Small	intestine
32	chr11:65477200-65479000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:65477200-65479000	Enhancers	NHDF-Ad	bronchial
34	chr11:65477400-65478600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:65477600-65478600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:65477600-65478800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:65477600-65479400	Weak transcription	Stomach Mucosa	stomach
38	chr11:65477800-65478200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:65477800-65478600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:65477800-65478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65477800-65478600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:65477800-65478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:65477800-65478800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:65477800-65478800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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