Variant report

Variant	rs12520301
Chromosome Location	chr5:79417092-79417093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79414738..79417325-chr5:79420437..79423118,2	K562	blood:
2	chr5:79410679..79412376-chr5:79415875..79417383,2	MCF-7	breast:
3	chr5:79417050..79419416-chr5:79551454..79553620,2	K562	blood:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1470025	0.82[ASN][1000 genomes]
rs2164993	0.83[ASN][1000 genomes]
rs2405135	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703799	0.89[ASN][1000 genomes]
rs4703800	0.82[ASN][1000 genomes]
rs4704610	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
2	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:79409400-79417600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:79409800-79420800	Weak transcription	Thymus	Thymus
5	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:79410200-79417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:79413400-79419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:79413600-79420600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:79413800-79418200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:79413800-79418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:79413800-79418800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:79413800-79419000	Weak transcription	Primary T cells from cord blood	blood
14	chr5:79414000-79417200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:79414000-79420000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:79414800-79417600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:79414800-79420400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:79415000-79419600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:79415400-79418200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:79415400-79419800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:79415600-79418200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:79415600-79420600	Weak transcription	Brain Anterior Caudate	brain
23	chr5:79415800-79419400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:79417000-79417400	ZNF genes & repeats	Dnd41	blood
25	chr5:79417000-79417800	ZNF genes & repeats	Fetal Thymus	thymus
26	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea

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