Variant report

Variant	rs2061282
Chromosome Location	chr5:58533719-58533720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10461659	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10805513	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12658429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17528543	0.81[TSI][hapmap]
rs17528550	0.86[MEX][hapmap];0.81[TSI][hapmap]
rs17589633	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs17589745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17589766	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3891334	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6898269	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs72644095	0.94[ASN][1000 genomes]
rs72644096	0.92[ASN][1000 genomes]
rs72644097	0.91[ASN][1000 genomes]
rs72644098	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
2	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
4	chr5:58529800-58535000	Weak transcription	Right Atrium	heart
5	chr5:58531000-58537600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:58531200-58534600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:58531800-58535600	Enhancers	HUVEC	blood vessel
8	chr5:58532000-58534000	Enhancers	Right Ventricle	heart
9	chr5:58532200-58533800	Flanking Active TSS	A549	lung
10	chr5:58532600-58540800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:58532600-58541000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:58532800-58533800	Enhancers	Hela-S3	cervix
13	chr5:58533000-58535200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:58533200-58534400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:58533200-58536800	Weak transcription	Osteobl	bone
16	chr5:58533200-58540800	Weak transcription	HSMMtube	muscle
17	chr5:58533400-58534600	Weak transcription	Fetal Heart	heart
18	chr5:58533400-58535600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:58533400-58537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:58533600-58534000	Enhancers	Psoas Muscle	Psoas
21	chr5:58533600-58541000	Weak transcription	Rectal Mucosa Donor 31	rectum

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