Variant report

Variant	rs58172827
Chromosome Location	chr5:68631743-68631744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68631692..68634148-chr5:68638657..68640415,2	K562	blood:
2	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
3	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
4	chr5:68625780..68629489-chr5:68629805..68632060,4	MCF-7	breast:
5	chr5:68630799..68633457-chr5:68666139..68668390,2	K562	blood:

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000183323	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873431	1.00[EUR][1000 genomes]
rs4252222	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893921	1.00[EUR][1000 genomes]
rs73772384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68629000-68631800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:68629000-68645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:68629000-68646000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:68629000-68646800	Weak transcription	NH-A	brain
6	chr5:68629200-68646000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:68630000-68632200	Weak transcription	Right Atrium	heart
8	chr5:68630400-68631800	Enhancers	Hela-S3	cervix
9	chr5:68630800-68631800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr5:68630800-68631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:68630800-68632200	Enhancers	K562	blood
12	chr5:68630800-68632600	Enhancers	Fetal Intestine Large	intestine
13	chr5:68631000-68632200	Enhancers	HepG2	liver
14	chr5:68631000-68632800	Enhancers	Fetal Intestine Small	intestine
15	chr5:68631200-68631800	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:68631600-68645600	Weak transcription	Pancreas	Pancrea
17	chr5:68631600-68648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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