Variant report

Variant	rs28472760
Chromosome Location	chr4:15347126-15347127
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	chr4:15343912..15346352-chr4:15346358..15349223,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10018161	0.82[AFR][1000 genomes]
rs10021583	0.85[AFR][1000 genomes]
rs10027563	0.83[AFR][1000 genomes]
rs10033552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10033910	0.85[AFR][1000 genomes]
rs28442010	0.85[AFR][1000 genomes]
rs28445020	0.82[AFR][1000 genomes]
rs28452706	0.85[AFR][1000 genomes]
rs28608871	0.85[AFR][1000 genomes]
rs28671464	0.85[AFR][1000 genomes]
rs28703277	0.94[AFR][1000 genomes];1.00[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15336200-15351400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:15342200-15350000	Weak transcription	Aorta	Aorta
3	chr4:15342600-15355600	Weak transcription	Right Atrium	heart
4	chr4:15342800-15347200	Enhancers	Ovary	ovary
5	chr4:15343000-15349800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:15343200-15349200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:15343400-15350200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:15344000-15348200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:15344400-15350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:15344600-15347600	Enhancers	Fetal Kidney	kidney
11	chr4:15345600-15347200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:15345800-15350400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:15345800-15351000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:15345800-15353800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:15346200-15350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:15346200-15350000	Weak transcription	HMEC	breast
17	chr4:15346200-15350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:15346200-15351000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:15346400-15347400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:15346600-15347200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:15346600-15349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:15346800-15347200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:15346800-15347200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:15346800-15347200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:15346800-15347200	Enhancers	Spleen	Spleen
26	chr4:15346800-15347400	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:15346800-15350800	Weak transcription	Fetal Stomach	stomach
28	chr4:15347000-15347200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:15347000-15348000	Enhancers	Primary B cells from cord blood	blood
30	chr4:15347000-15349600	Weak transcription	Fetal Lung	lung
31	chr4:15347000-15349800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:15347000-15349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:15347000-15350000	Weak transcription	Placenta	Placenta
34	chr4:15347000-15350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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