Variant report

Variant	rs12419205
Chromosome Location	chr11:66094332-66094333
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: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	chr11:66055517..66058444-chr11:66093639..66096253,2	K562	blood:
2	chr11:66079696..66080691-chr11:66093808..66094363,2	MCF-7	breast:
3	chr11:66054004..66059089-chr11:66088488..66094920,9	MCF-7	breast:
4	chr11:66084338..66086031-chr11:66092947..66095134,2	K562	blood:
5	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
6	chr11:66044842..66048035-chr11:66092705..66097892,5	K562	blood:
7	chr11:66048510..66051122-chr11:66093763..66096173,2	MCF-7	breast:
8	chr11:66079319..66080867-chr11:66093163..66095729,2	MCF-7	breast:
9	chr11:66089278..66092280-chr11:66092886..66097368,7	K562	blood:
10	chr11:66094091..66097272-chr11:66136875..66141085,5	MCF-7	breast:
11	chr11:66054081..66055900-chr11:66092894..66095581,2	MCF-7	breast:
12	chr11:66054084..66058324-chr11:66093357..66097768,5	K562	blood:
13	chr11:66094142..66095945-chr11:66245502..66248123,2	K562	blood:
14	chr11:66089326..66092230-chr11:66092519..66097068,6	K562	blood:
15	chr11:66092528..66094950-chr11:66110471..66113392,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254986	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000254452	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4930176	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104965	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:66089000-66094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:66089000-66094800	Enhancers	NHDF-Ad	bronchial
6	chr11:66089000-66095000	Enhancers	Adipose Nuclei	Adipose
7	chr11:66089200-66097600	Enhancers	NHLF	lung
8	chr11:66090600-66094800	Weak transcription	K562	blood
9	chr11:66090600-66095000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:66090600-66096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:66091400-66096600	Enhancers	Placenta	Placenta
12	chr11:66091600-66095200	Enhancers	Spleen	Spleen
13	chr11:66091600-66096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:66091600-66096600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:66091800-66094800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66091800-66094800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:66091800-66094800	Enhancers	HSMMtube	muscle
18	chr11:66091800-66095000	Enhancers	Fetal Lung	lung
19	chr11:66091800-66095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:66091800-66095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:66091800-66096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:66091800-66096000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:66091800-66096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:66091800-66096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:66091800-66096600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:66091800-66096600	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:66091800-66096600	Enhancers	Fetal Stomach	stomach
28	chr11:66091800-66096600	Enhancers	NH-A	brain
29	chr11:66091800-66097800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:66092000-66096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:66092000-66096000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:66092000-66096400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr11:66092000-66096400	Enhancers	Fetal Muscle Leg	muscle
34	chr11:66092200-66094800	Enhancers	NHEK	skin
35	chr11:66092200-66095600	Weak transcription	Ovary	ovary
36	chr11:66092200-66096000	Enhancers	A549	lung
37	chr11:66092200-66096400	Enhancers	Esophagus	oesophagus
38	chr11:66092200-66096400	Enhancers	Lung	lung
39	chr11:66092200-66097000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:66092400-66096400	Enhancers	Fetal Intestine Large	intestine
41	chr11:66092400-66097600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:66092600-66094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:66092600-66094800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:66092600-66095200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:66092600-66096400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:66092600-66096400	Enhancers	Right Ventricle	heart
47	chr11:66092800-66095000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:66092800-66095200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:66092800-66095800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:66092800-66096000	Enhancers	Primary T cells from cord blood	blood

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