Variant report

Variant	rs28483274
Chromosome Location	chr4:84550345-84550346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:84545019..84547411-chr4:84549670..84551189,2	K562	blood:
2	chr4:84454596..84459140-chr4:84549591..84552910,4	K562	blood:

Variant related genes	Relation type
ENSG00000138678	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10014103	0.91[AFR][1000 genomes]
rs10020093	1.00[AFR][1000 genomes]
rs28534439	0.84[AFR][1000 genomes]
rs28630731	1.00[AFR][1000 genomes]
rs28637279	1.00[AFR][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	nsv829994	chr4:84366299-84558316	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84547800-84551200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:84548000-84551200	Weak transcription	Fetal Lung	lung
3	chr4:84548000-84551400	Weak transcription	Pancreas	Pancrea
4	chr4:84548800-84551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:84548800-84551000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:84548800-84551600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:84549000-84550800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:84549000-84551200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:84549000-84551400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:84549000-84551400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:84549000-84552000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:84549200-84550800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:84549200-84550800	Weak transcription	Fetal Stomach	stomach
14	chr4:84549200-84551000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:84549200-84551200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:84549200-84551400	Weak transcription	Left Ventricle	heart
17	chr4:84549200-84551400	Weak transcription	Ovary	ovary
18	chr4:84549200-84551400	Weak transcription	Psoas Muscle	Psoas
19	chr4:84549200-84551400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:84549200-84553200	Weak transcription	Colonic Mucosa	Colon
21	chr4:84549400-84551200	Weak transcription	Fetal Heart	heart
22	chr4:84549400-84551200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:84550000-84551200	ZNF genes & repeats	K562	blood

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