Variant report

Variant	rs244570
Chromosome Location	chr5:58620440-58620441
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs154221	0.81[CEU][hapmap]
rs17528543	0.81[TSI][hapmap]
rs17528550	0.81[TSI][hapmap]
rs17723785	0.81[TSI][hapmap]
rs255651	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255652	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255653	0.87[EUR][1000 genomes]
rs27168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2760953	chr5:58609468-58620440	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58612800-58627200	Weak transcription	Aorta	Aorta
2	chr5:58613600-58626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58613600-58628600	Weak transcription	Gastric	stomach
4	chr5:58613800-58622600	Weak transcription	Fetal Brain Female	brain
5	chr5:58614000-58624600	Weak transcription	Fetal Stomach	stomach
6	chr5:58616200-58623000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58616200-58624600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:58616800-58621600	Enhancers	Fetal Heart	heart
9	chr5:58617200-58622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58617600-58624600	Weak transcription	Left Ventricle	heart
11	chr5:58618600-58624600	Weak transcription	Right Atrium	heart
12	chr5:58618800-58623200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58618800-58624400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:58618800-58629000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:58619200-58623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:58619200-58624000	Weak transcription	Fetal Kidney	kidney
17	chr5:58619200-58624200	Weak transcription	Hela-S3	cervix
18	chr5:58619200-58624400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:58619400-58622200	Weak transcription	Fetal Brain Male	brain
20	chr5:58619400-58625400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:58619800-58620800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:58620000-58620600	Enhancers	Fetal Lung	lung
23	chr5:58620000-58621600	Genic enhancers	A549	lung
24	chr5:58620200-58620600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:58620200-58623000	Weak transcription	Psoas Muscle	Psoas
26	chr5:58620400-58620600	Enhancers	Fetal Intestine Small	intestine
27	chr5:58620400-58622800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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