Variant report

Variant	rs11169733
Chromosome Location	chr12:51565364-51565365
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51564751..51566966-chr12:51783543..51785825,2	K562	blood:
2	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
3	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
4	chr12:51557800..51560128-chr12:51563372..51565944,2	K562	blood:
5	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
6	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
7	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
8	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000139629	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10876142	0.80[ASN][1000 genomes]
rs10876150	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169720	0.83[ASN][1000 genomes]
rs11169721	0.81[ASN][1000 genomes]
rs11169722	0.83[ASN][1000 genomes]
rs11169734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169737	0.81[ASN][1000 genomes]
rs11169738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169740	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169741	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169747	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169751	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12227032	0.83[ASN][1000 genomes]
rs12227973	0.82[ASN][1000 genomes]
rs12230388	0.82[ASN][1000 genomes]
rs1493382	0.81[ASN][1000 genomes]
rs2436636	0.82[ASN][1000 genomes]
rs2452794	0.82[ASN][1000 genomes]
rs2452795	0.82[ASN][1000 genomes]
rs2452796	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640512	0.82[ASN][1000 genomes]
rs2640515	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640518	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640520	0.83[ASN][1000 genomes]
rs2640522	0.83[ASN][1000 genomes]
rs2640525	0.83[ASN][1000 genomes]
rs2640528	0.82[ASN][1000 genomes]
rs2730653	0.83[ASN][1000 genomes]
rs2730657	0.81[ASN][1000 genomes]
rs2730659	0.82[ASN][1000 genomes]
rs28392616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2934092	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2956427	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768971	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768974	0.83[ASN][1000 genomes]
rs56729853	0.82[ASN][1000 genomes]
rs60203224	0.84[ASN][1000 genomes]
rs6580802	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136657	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305956	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7309374	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7399089	0.92[EUR][1000 genomes]
rs7399090	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7399214	0.83[ASN][1000 genomes]
rs7959264	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964762	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974242	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980006	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
2	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
3	chr12:51550400-51565400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:51554800-51565400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:51560600-51565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51560600-51565600	Weak transcription	Gastric	stomach
7	chr12:51561200-51565400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:51561200-51565400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:51562800-51565400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:51563200-51565600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51563400-51565600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:51563600-51565400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51563600-51565400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:51563600-51565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:51563800-51565400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:51564200-51565600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:51564200-51565600	Enhancers	Small Intestine	intestine
18	chr12:51564200-51565800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51564200-51566200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:51564400-51565600	Enhancers	Fetal Brain Male	brain
21	chr12:51564600-51565400	Enhancers	Adipose Nuclei	Adipose
22	chr12:51564600-51566000	Flanking Active TSS	Dnd41	blood
23	chr12:51564800-51565400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:51564800-51565400	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:51564800-51565400	Enhancers	Brain Angular Gyrus	brain
26	chr12:51564800-51565400	Enhancers	Brain Hippocampus Middle	brain
27	chr12:51564800-51565400	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:51564800-51565400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:51564800-51565400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:51564800-51565400	Enhancers	Fetal Stomach	stomach
31	chr12:51564800-51565400	Enhancers	A549	lung
32	chr12:51564800-51565600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:51564800-51565600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:51564800-51565600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:51564800-51565600	Enhancers	Fetal Heart	heart
36	chr12:51564800-51565800	Flanking Active TSS	Hela-S3	cervix
37	chr12:51564800-51566000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:51564800-51566200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr12:51564800-51567200	Active TSS	HSMMtube	muscle
40	chr12:51564800-51567400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:51564800-51567400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:51564800-51567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:51564800-51567400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:51564800-51567400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:51564800-51567400	Active TSS	HMEC	breast
46	chr12:51565000-51565400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:51565000-51565400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:51565000-51565400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:51565000-51565400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:51565000-51565400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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