Variant report

Variant	rs62356694
Chromosome Location	chr5:58403238-58403239
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	chr5:58401293..58403478-chr5:58419519..58421802,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10065303	0.84[EUR][1000 genomes]
rs10452450	0.84[EUR][1000 genomes]
rs12109774	0.83[EUR][1000 genomes]
rs17721564	0.83[EUR][1000 genomes]
rs17721878	0.83[ASN][1000 genomes]
rs62356686	0.84[EUR][1000 genomes]
rs62356687	0.84[EUR][1000 genomes]
rs62356690	0.84[EUR][1000 genomes]
rs62356691	0.84[EUR][1000 genomes]
rs62356692	0.85[EUR][1000 genomes]
rs6880249	0.93[ASN][1000 genomes]
rs6898082	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6898408	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58395600-58403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:58395800-58403800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58397200-58403600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:58399600-58405000	Weak transcription	Adipose Nuclei	Adipose
7	chr5:58400800-58412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:58401000-58403400	Weak transcription	Fetal Lung	lung
9	chr5:58401000-58403600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:58401000-58403800	Weak transcription	Esophagus	oesophagus
11	chr5:58401000-58405400	Weak transcription	Left Ventricle	heart
12	chr5:58401000-58405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:58401000-58407800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:58401000-58408000	Weak transcription	Fetal Brain Female	brain
15	chr5:58401000-58412200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:58401000-58412400	Weak transcription	Right Atrium	heart
17	chr5:58401000-58413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:58401200-58405400	Weak transcription	Fetal Heart	heart
20	chr5:58401400-58405400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:58401400-58411400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:58401800-58410600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58402200-58403600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:58402400-58404000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:58402800-58404000	Transcr. at gene 5' and 3'	A549	lung
26	chr5:58402800-58404200	Enhancers	Colon Smooth Muscle	Colon
27	chr5:58403000-58403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:58403000-58403600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:58403000-58404000	Enhancers	Psoas Muscle	Psoas
30	chr5:58403200-58404200	Genic enhancers	Hela-S3	cervix

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