Variant report

Variant	rs73418374
Chromosome Location	chr15:58578781-58578782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58566466..58569601-chr15:58576243..58578947,3	K562	blood:
2	chr15:58578016..58579856-chr15:58623161..58625225,2	MCF-7	breast:
3	chr15:58562484..58565368-chr15:58578132..58581112,2	K562	blood:
4	chr15:58566466..58568855-chr15:58576243..58578947,2	K562	blood:
5	chr15:58572569..58575158-chr15:58577696..58579609,2	MCF-7	breast:
6	chr15:58571212..58573440-chr15:58578519..58580628,2	K562	blood:
7	chr15:58571087..58573082-chr15:58578472..58580667,2	K562	blood:
8	chr15:58578437..58580327-chr15:58877282..58879701,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1430308	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953374	0.80[EUR][1000 genomes]
rs17240713	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17821177	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821184	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17821190	0.92[ASN][1000 genomes]
rs17821202	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1850272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414560	0.82[EUR][1000 genomes]
rs28430899	0.95[ASN][1000 genomes]
rs4471613	0.82[EUR][1000 genomes]
rs55819716	0.92[ASN][1000 genomes]
rs55901481	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56140064	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56152791	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56247511	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56302476	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73416459	0.83[EUR][1000 genomes]
rs73418322	0.84[EUR][1000 genomes]
rs73418343	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv569599	chr15:58563209-58579956	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:58570800-58582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:58574400-58580200	Enhancers	Fetal Thymus	thymus
4	chr15:58574800-58579000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:58576600-58579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:58576600-58580400	Enhancers	Thymus	Thymus
7	chr15:58576800-58579800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:58577200-58579400	Enhancers	Dnd41	blood
9	chr15:58577800-58579000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:58577800-58579200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr15:58578000-58579200	Enhancers	Primary T cells from cord blood	blood
12	chr15:58578000-58579600	Enhancers	HMEC	breast
13	chr15:58578000-58579800	Enhancers	NHEK	skin
14	chr15:58578200-58579000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:58578200-58579200	Enhancers	HepG2	liver
16	chr15:58578200-58579400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:58578600-58579200	Enhancers	Liver	Liver

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