Variant report

Variant	rs7707065
Chromosome Location	chr5:58460957-58460958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1559251	0.82[ASN][1000 genomes]
rs1971940	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28385324	0.87[ASN][1000 genomes]
rs4699935	0.85[ASN][1000 genomes]
rs4700322	0.87[ASN][1000 genomes]
rs6450506	0.80[ASN][1000 genomes]
rs7728050	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7730750	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
2	chr5:58447600-58464000	Weak transcription	Right Ventricle	heart
3	chr5:58447600-58465200	Weak transcription	Right Atrium	heart
4	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
7	chr5:58449400-58473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58452200-58464000	Weak transcription	Hela-S3	cervix
10	chr5:58454200-58465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:58454400-58472800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:58455200-58473400	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:58455800-58473600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:58456600-58464000	Weak transcription	Psoas Muscle	Psoas
15	chr5:58457800-58473400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58458000-58463600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:58458600-58462200	Weak transcription	Thymus	Thymus
18	chr5:58459400-58473400	Weak transcription	Fetal Stomach	stomach
19	chr5:58460000-58472600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:58460600-58464000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:58460800-58461400	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:58460800-58461600	Enhancers	A549	lung
23	chr5:58460800-58469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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