Variant report

Variant	rs12223774
Chromosome Location	chr11:46265513-46265514
allele	G/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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46262681..46266586-chr11:46271092..46274649,4	MCF-7	breast:
2	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
3	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
4	chr11:46140962..46145134-chr11:46264559..46267639,5	K562	blood:
5	chr11:46264875..46267738-chr11:46329281..46332711,3	MCF-7	breast:
6	chr11:46264211..46266270-chr11:46367573..46370495,3	MCF-7	breast:
7	chr11:46148639..46152433-chr11:46264114..46268004,4	K562	blood:
8	chr11:46264082..46266416-chr7:151375101..151377352,2	MCF-7	breast:
9	chr11:46264156..46266596-chr11:46279447..46282545,3	K562	blood:
10	chr11:46243733..46245784-chr11:46263716..46265600,2	K562	blood:
11	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
12	chr11:46263532..46266439-chr11:46314699..46317339,4	MCF-7	breast:
13	chr11:46264685..46267972-chr11:46298654..46302418,5	K562	blood:
14	chr11:46263449..46265735-chr11:46337314..46338830,2	MCF-7	breast:
15	chr11:46264156..46266747-chr11:46279886..46281544,2	K562	blood:
16	chr11:46263045..46265873-chr11:46295785..46297445,2	MCF-7	breast:
17	chr11:46132224..46135042-chr11:46263015..46266575,4	K562	blood:
18	chr11:46263663..46266589-chr11:46322297..46324739,2	K562	blood:
19	chr11:46262370..46265982-chr11:46295406..46297667,3	MCF-7	breast:
20	chr11:46263737..46269397-chr11:46329982..46337819,11	K562	blood:
21	chr11:46264935..46266641-chr11:46400066..46402314,2	K562	blood:
22	chr11:46265051..46266629-chr11:46356123..46358968,2	K562	blood:
23	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
24	chr11:46263412..46267230-chr11:46295489..46297894,3	K562	blood:
25	chr11:46258132..46262487-chr11:46262978..46267443,11	MCF-7	breast:
26	chr11:46263823..46266551-chr11:46357468..46359164,2	K562	blood:
27	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
28	chr11:45952509..45955320-chr11:46263473..46266230,2	MCF-7	breast:
29	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
30	chr11:46264430..46267699-chr11:46311283..46314197,3	K562	blood:
31	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
32	chr11:46263512..46266162-chr11:46400949..46402899,2	K562	blood:
33	chr11:46141561..46146352-chr11:46263499..46266463,7	MCF-7	breast:
34	chr11:46264390..46266191-chr11:46349248..46351838,2	K562	blood:
35	chr11:46242391..46244126-chr11:46262413..46265513,3	K562	blood:
36	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
37	chr11:46264754..46267699-chr11:46310847..46314197,3	K562	blood:
38	chr11:46142521..46144729-chr11:46264687..46266930,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254653	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000255007	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10838586	0.90[ASN][1000 genomes]
rs10838589	0.90[ASN][1000 genomes]
rs11038826	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11038831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038834	0.92[ASN][1000 genomes]
rs12225704	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7128258	0.90[ASN][1000 genomes]

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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46264200-46265600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:46264200-46265600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:46264200-46265600	Flanking Active TSS	HSMM	muscle
4	chr11:46264200-46265600	Flanking Active TSS	NHEK	skin
5	chr11:46264400-46265600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:46264400-46265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46264400-46265600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:46264400-46265600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:46264400-46265600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:46264400-46265600	Active TSS	Psoas Muscle	Psoas
11	chr11:46264400-46265600	Flanking Active TSS	HUVEC	blood vessel
12	chr11:46264400-46265600	Flanking Active TSS	NH-A	brain
13	chr11:46264600-46265600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:46264600-46265600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
15	chr11:46264600-46265600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:46264600-46265600	Active TSS	Aorta	Aorta
17	chr11:46264600-46265600	Active TSS	Brain Angular Gyrus	brain
18	chr11:46264600-46265600	Flanking Active TSS	Fetal Brain Female	brain
19	chr11:46264600-46265600	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:46264600-46265600	Active TSS	Right Ventricle	heart
21	chr11:46264600-46265600	Active TSS	A549	lung
22	chr11:46264800-46265600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:46264800-46265600	Active TSS	Primary T cells from cord blood	blood
24	chr11:46264800-46265600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:46264800-46265600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:46264800-46265600	Active TSS	Brain Anterior Caudate	brain
27	chr11:46264800-46265600	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:46264800-46265600	Active TSS	Brain Hippocampus Middle	brain
29	chr11:46264800-46265600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:46264800-46265600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:46264800-46265600	Active TSS	Brain Substantia Nigra	brain
32	chr11:46264800-46265600	Active TSS	Duodenum Mucosa	Duodenum
33	chr11:46264800-46265600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:46264800-46265600	Active TSS	Fetal Intestine Large	intestine
35	chr11:46264800-46265600	Active TSS	Fetal Intestine Small	intestine
36	chr11:46264800-46265600	Active TSS	Fetal Kidney	kidney
37	chr11:46264800-46265600	Active TSS	Fetal Muscle Trunk	muscle
38	chr11:46264800-46265600	Active TSS	Ovary	ovary
39	chr11:46264800-46265600	Active TSS	Pancreas	Pancrea
40	chr11:46264800-46265600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:46264800-46265600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:46264800-46265600	Active TSS	Stomach Smooth Muscle	stomach
43	chr11:46264800-46265600	Active TSS	GM12878-XiMat	blood
44	chr11:46264800-46265600	Active TSS	HSMMtube	muscle
45	chr11:46264800-46266000	Active TSS	K562	blood
46	chr11:46265000-46265600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:46265000-46265600	Flanking Active TSS	HMEC	breast
48	chr11:46265000-46265600	Active TSS	Osteobl	bone
49	chr11:46265200-46265600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:46265200-46265600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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