Variant report

Variant	rs580840
Chromosome Location	chr11:72924420-72924421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72923810-72925310	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72468650..72470377-chr11:72923047..72925785,2	K562	blood:
2	chr11:72918600..72920436-chr11:72922905..72925529,2	MCF-7	breast:

Variant related genes	Relation type
P2RY2	TF binding region
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs476923	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs503113	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs558202	0.95[EUR][1000 genomes]
rs565889	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72910200-72925000	Weak transcription	Left Ventricle	heart
2	chr11:72913000-72928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:72913200-72924600	Weak transcription	Right Ventricle	heart
4	chr11:72916800-72928400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:72918200-72925600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:72918800-72928200	Weak transcription	A549	lung
7	chr11:72919800-72925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:72921600-72926600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:72922000-72928000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:72922400-72925400	Weak transcription	Esophagus	oesophagus
11	chr11:72923600-72925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:72923600-72925400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:72923600-72925800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:72923800-72925200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:72923800-72925200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72923800-72925200	Enhancers	HepG2	liver
17	chr11:72923800-72925800	Enhancers	Psoas Muscle	Psoas
18	chr11:72923800-72926000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:72923800-72926400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:72923800-72927800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:72924000-72925400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:72924000-72925600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:72924000-72925600	Enhancers	Brain Substantia Nigra	brain
24	chr11:72924000-72926000	Enhancers	Fetal Muscle Leg	muscle
25	chr11:72924000-72928200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:72924000-72928400	Weak transcription	K562	blood
27	chr11:72924200-72925000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:72924200-72925000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:72924200-72925000	Enhancers	Fetal Lung	lung
30	chr11:72924200-72925200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:72924200-72925800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:72924200-72925800	Enhancers	Right Atrium	heart
33	chr11:72924200-72928000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:72924400-72924600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:72924400-72925200	Weak transcription	HMEC	breast
36	chr11:72924400-72925800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:72924400-72925800	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:72924400-72927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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