Variant report

Variant	rs60544493
Chromosome Location	chr17:45316228-45316229
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:
2	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:
3	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
4	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
5	chr17:45311950..45314693-chr17:45316082..45319144,3	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17605348	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55821487	1.00[ASN][1000 genomes]
rs57626867	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58097871	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73314788	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73329176	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73985148	0.92[EUR][1000 genomes];0.90[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv521092	chr17:45309693-45317499	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45304200-45316600	Weak transcription	Left Ventricle	heart
2	chr17:45307800-45316400	Weak transcription	Fetal Heart	heart
3	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:45308000-45316800	Weak transcription	HSMMtube	muscle
5	chr17:45308200-45317000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:45309000-45316600	Weak transcription	Hela-S3	cervix
7	chr17:45310800-45316800	Weak transcription	K562	blood
8	chr17:45314000-45316400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:45314200-45316600	Weak transcription	Right Atrium	heart
10	chr17:45314200-45317000	Weak transcription	Right Ventricle	heart
11	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:45314800-45316600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:45315000-45316600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:45315400-45316400	Weak transcription	HUVEC	blood vessel
15	chr17:45315400-45316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:45315600-45316600	Weak transcription	Fetal Intestine Small	intestine
17	chr17:45315800-45317200	Weak transcription	Spleen	Spleen
18	chr17:45316000-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:45316000-45321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:45316200-45317000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:45316200-45317200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:45316200-45318600	Enhancers	Fetal Muscle Leg	muscle

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