Variant report

Variant	rs28534439
Chromosome Location	chr4:84549957-84549958
allele	C/G
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10020093	0.84[AFR][1000 genomes]
rs28483274	0.84[AFR][1000 genomes]
rs28630731	0.84[AFR][1000 genomes]
rs28637279	0.84[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:25 , 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	chr4:84548800-84550000	Weak transcription	K562	blood
5	chr4:84548800-84550200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:84548800-84551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:84548800-84551000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:84548800-84551600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:84549000-84550800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:84549000-84551200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:84549000-84551400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:84549000-84551400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:84549000-84552000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:84549200-84550800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:84549200-84550800	Weak transcription	Fetal Stomach	stomach
16	chr4:84549200-84551000	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:84549200-84551200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:84549200-84551400	Weak transcription	Left Ventricle	heart
19	chr4:84549200-84551400	Weak transcription	Ovary	ovary
20	chr4:84549200-84551400	Weak transcription	Psoas Muscle	Psoas
21	chr4:84549200-84551400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:84549200-84553200	Weak transcription	Colonic Mucosa	Colon
23	chr4:84549400-84551200	Weak transcription	Fetal Heart	heart
24	chr4:84549400-84551200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:84549800-84550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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