Variant report

Variant	rs56077650
Chromosome Location	chr5:58418103-58418104
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	chr5:58416156..58418689-chr5:58423401..58425784,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57038317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60564381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356723	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762617	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
6	chr5:58412400-58419600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:58412600-58419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:58412600-58420000	Weak transcription	HSMMtube	muscle
9	chr5:58412800-58419600	Weak transcription	Hela-S3	cervix
10	chr5:58414000-58418200	Genic enhancers	A549	lung
11	chr5:58414000-58419200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58414200-58418600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:58414200-58419400	Weak transcription	Fetal Lung	lung
14	chr5:58414200-58419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:58414600-58418800	Weak transcription	Fetal Heart	heart
16	chr5:58414600-58419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:58414600-58421200	Weak transcription	Left Ventricle	heart
18	chr5:58414600-58422600	Weak transcription	Fetal Intestine Large	intestine
19	chr5:58414800-58419400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:58414800-58419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:58414800-58422800	Weak transcription	Stomach Mucosa	stomach
22	chr5:58415600-58419000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:58416800-58418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:58418000-58418800	Enhancers	Primary T cells from cord blood	blood
25	chr5:58418000-58419600	Weak transcription	Psoas Muscle	Psoas

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