Variant report

Variant	rs11227764
Chromosome Location	chr11:67083128-67083129
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:
2	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
3	chr11:67081944..67087750-chr11:67116991..67120731,7	K562	blood:
4	chr11:66635068..66638065-chr11:67082602..67085288,2	K562	blood:
5	chr11:67063910..67066181-chr11:67080598..67083311,2	K562	blood:
6	chr11:67029109..67036320-chr11:67082974..67085683,12	K562	blood:
7	chr11:66927207..66929026-chr11:67082539..67085384,2	K562	blood:
8	chr11:67082881..67085755-chr11:67132076..67134677,2	K562	blood:
9	chr11:66836365..66838201-chr11:67082431..67085361,2	K562	blood:
10	chr11:67082651..67086060-chr11:67167678..67170594,3	K562	blood:
11	chr11:67039446..67046428-chr11:67082594..67088033,9	K562	blood:
12	chr11:67081941..67085629-chr11:67134607..67137737,4	MCF-7	breast:
13	chr11:67004638..67007561-chr11:67081938..67086220,3	K562	blood:
14	chr11:66823634..66826061-chr11:67081956..67084391,2	MCF-7	breast:
15	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256514	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11227771	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227780	0.93[EUR][1000 genomes]
rs11826923	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2004225	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3802745	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57238619	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58530946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60229295	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891566	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61891569	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891571	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61891572	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61891574	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72932705	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
7	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
10	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
12	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67070200-67084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67070400-67083800	Weak transcription	Dnd41	blood
3	chr11:67071800-67084400	Weak transcription	Fetal Kidney	kidney
4	chr11:67072000-67084000	Weak transcription	HUVEC	blood vessel
5	chr11:67072200-67084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67072200-67084000	Weak transcription	Brain Germinal Matrix	brain
7	chr11:67072200-67084400	Weak transcription	Fetal Brain Female	brain
8	chr11:67072400-67084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:67072400-67084400	Weak transcription	HSMMtube	muscle
10	chr11:67072400-67084400	Weak transcription	NHDF-Ad	bronchial
11	chr11:67072400-67084600	Weak transcription	Small Intestine	intestine
12	chr11:67073400-67084400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:67075800-67084400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:67076400-67084400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:67077000-67084400	Weak transcription	Thymus	Thymus
16	chr11:67077400-67084200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:67077400-67084400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:67077400-67084400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:67077600-67084000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:67077600-67084000	Weak transcription	Osteobl	bone
21	chr11:67077800-67083200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:67077800-67084200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:67078000-67084000	Weak transcription	A549	lung
24	chr11:67078200-67084400	Weak transcription	Left Ventricle	heart
25	chr11:67078400-67084400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:67078600-67084400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:67078600-67084400	Weak transcription	Fetal Lung	lung
28	chr11:67078600-67084400	Weak transcription	NHLF	lung
29	chr11:67078800-67084000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:67078800-67084400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:67078800-67084400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:67078800-67084400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:67078800-67084400	Weak transcription	Ovary	ovary
34	chr11:67079000-67084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:67079200-67084200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:67079200-67084400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:67079200-67084400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:67079200-67084400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:67079200-67084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:67079400-67084000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:67079400-67084400	Weak transcription	Aorta	Aorta
42	chr11:67079400-67084400	Weak transcription	Brain Anterior Caudate	brain
43	chr11:67079400-67084400	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:67079400-67084400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:67079400-67084400	Weak transcription	Pancreas	Pancrea
46	chr11:67079600-67084000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:67079600-67084200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67079600-67084400	Weak transcription	Liver	Liver
49	chr11:67079600-67084400	Enhancers	Placenta	Placenta
50	chr11:67079600-67084400	Weak transcription	Lung	lung

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