Variant report

Variant	rs28493220
Chromosome Location	chr4:47464470-47464471
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	chr4:47447254..47449925-chr4:47463916..47465485,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10002676	0.88[AFR][1000 genomes]
rs28525043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55696085	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056018	0.83[AMR][1000 genomes]
rs58507357	1.00[AMR][1000 genomes]
rs59324835	1.00[AMR][1000 genomes]
rs60727801	1.00[AMR][1000 genomes]
rs6818323	1.00[AMR][1000 genomes]
rs73813529	1.00[AMR][1000 genomes]
rs73813530	1.00[AMR][1000 genomes]
rs73813531	1.00[AMR][1000 genomes]
rs73813540	1.00[AMR][1000 genomes]
rs73813541	1.00[AMR][1000 genomes]
rs73813543	1.00[AMR][1000 genomes]
rs73813547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684002	1.00[AMR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47445400-47465000	Weak transcription	Lung	lung
3	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
4	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
5	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
8	chr4:47450600-47464800	Weak transcription	A549	lung
9	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
10	chr4:47452000-47464600	Weak transcription	K562	blood
11	chr4:47452400-47464800	Weak transcription	Right Ventricle	heart
12	chr4:47452400-47465000	Weak transcription	Psoas Muscle	Psoas
13	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
14	chr4:47453800-47464800	Weak transcription	HSMMtube	muscle
15	chr4:47454000-47465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:47454200-47464600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:47454200-47464800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:47454200-47465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:47454600-47464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:47454600-47465000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:47455600-47464600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:47455600-47465000	Weak transcription	Ovary	ovary
23	chr4:47456400-47464600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:47456600-47464600	Weak transcription	Placenta	Placenta
25	chr4:47456800-47464600	Weak transcription	Fetal Kidney	kidney
26	chr4:47456800-47464800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:47457600-47464600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:47458000-47464600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:47458200-47464600	Weak transcription	Fetal Intestine Small	intestine
30	chr4:47458200-47464600	Weak transcription	Fetal Stomach	stomach
31	chr4:47458200-47464800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:47458200-47464800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:47458200-47465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:47459200-47464800	Weak transcription	Fetal Intestine Large	intestine
35	chr4:47461200-47464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:47461800-47464600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:47461800-47464600	Weak transcription	NH-A	brain
38	chr4:47462000-47464600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:47462000-47464600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:47462000-47464600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:47462000-47464600	Weak transcription	HUVEC	blood vessel
42	chr4:47462000-47464800	Weak transcription	Liver	Liver
43	chr4:47462200-47464600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:47462200-47464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:47462200-47464600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:47462200-47464600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:47462200-47464600	Weak transcription	Fetal Lung	lung
48	chr4:47462400-47464800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:47462600-47464800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:47462800-47464600	Enhancers	Brain Hippocampus Middle	brain

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