Variant report

Variant	rs72920429
Chromosome Location	chr2:73250396-73250397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73248061..73250932-chr2:73261884..73263606,2	MCF-7	breast:
2	chr2:73249439..73251038-chr2:73263173..73266151,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56996879	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57471178	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292098	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6546799	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709269	1.00[EUR][1000 genomes]
rs6712130	0.90[AFR][1000 genomes]
rs6718781	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748246	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72918396	0.85[AFR][1000 genomes]
rs72918397	0.85[AFR][1000 genomes]
rs72918398	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72920409	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72920414	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72920416	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72920430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920440	1.00[EUR][1000 genomes]
rs72920444	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560421	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7593530	0.85[AFR][1000 genomes]
rs7599245	0.88[AFR][1000 genomes];0.93[AMR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
3	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
4	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73246000-73250400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:73246400-73253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:73246400-73263400	Weak transcription	K562	blood
15	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
18	chr2:73247000-73251000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:73247400-73250400	Strong transcription	Fetal Stomach	stomach
20	chr2:73247400-73250800	Genic enhancers	Liver	Liver
21	chr2:73247400-73283800	Weak transcription	Dnd41	blood
22	chr2:73247600-73250400	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:73247600-73250800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:73247600-73250800	Strong transcription	Fetal Intestine Large	intestine
25	chr2:73247800-73250800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:73248200-73277200	Weak transcription	HMEC	breast
27	chr2:73248600-73251000	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:73248800-73261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:73249000-73250400	Strong transcription	Placenta	Placenta
30	chr2:73249000-73250800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:73249000-73256000	Weak transcription	HSMM	muscle
32	chr2:73249000-73263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
34	chr2:73249200-73251000	Genic enhancers	HepG2	liver
35	chr2:73249200-73256200	Weak transcription	Fetal Kidney	kidney
36	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:73249400-73250400	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:73249400-73255200	Weak transcription	Fetal Brain Female	brain
40	chr2:73249400-73255600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:73249400-73258200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:73249400-73258400	Weak transcription	A549	lung
43	chr2:73249400-73258800	Weak transcription	Pancreas	Pancrea
44	chr2:73249400-73259200	Weak transcription	Gastric	stomach
45	chr2:73249400-73260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:73249400-73263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
48	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:73249400-73284200	Weak transcription	Aorta	Aorta

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