Variant report

Variant	rs28572326
Chromosome Location	chr4:56383226-56383227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28375674	0.90[AFR][1000 genomes]
rs28401668	0.80[AFR][1000 genomes]
rs28415334	0.86[AFR][1000 genomes]
rs28456193	0.90[AFR][1000 genomes]
rs28547142	0.90[AFR][1000 genomes]
rs28548946	0.90[AFR][1000 genomes]
rs28590090	0.90[AFR][1000 genomes]
rs34401111	0.90[AFR][1000 genomes]
rs9992424	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56341400-56385600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:56342800-56391400	Weak transcription	Psoas Muscle	Psoas
3	chr4:56355400-56386200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:56361200-56387400	Weak transcription	Left Ventricle	heart
5	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:56361800-56384400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:56366200-56386400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:56370000-56391200	Weak transcription	HSMM	muscle
9	chr4:56370200-56390800	Weak transcription	HMEC	breast
10	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:56373600-56386000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:56375400-56385000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:56375600-56390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:56375800-56384800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:56375800-56393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:56376200-56384800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:56376200-56386000	Weak transcription	HepG2	liver
18	chr4:56376200-56391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:56376400-56387400	Weak transcription	NHEK	skin
20	chr4:56378000-56387000	Weak transcription	Stomach Mucosa	stomach
21	chr4:56378000-56389800	Weak transcription	Gastric	stomach
22	chr4:56378000-56391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:56379400-56383800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:56379400-56384200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:56379800-56391200	Weak transcription	NHDF-Ad	bronchial
26	chr4:56380600-56391400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:56380800-56390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:56381000-56390600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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