Variant report

Variant	rs55700245
Chromosome Location	chr15:58626071-58626072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr15:58623656-58626204	A549	lung:	n/a	chr15:58624213-58624227 chr15:58625601-58625608
2	REST	chr15:58623541-58626129	A549	lung:	n/a	chr15:58624467-58624487 chr15:58623598-58623608
3	TCF12	chr15:58623230-58626563	A549	lung:	n/a	chr15:58625411-58625420
4	BCL3	chr15:58624004-58626106	A549	lung:	n/a	chr15:58624221-58624230

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58624616..58627086-chr15:58627284..58629454,3	MCF-7	breast:
2	chr15:58624557..58626281-chr15:58684257..58686056,2	K562	blood:
3	chr15:58520576..58522119-chr15:58624457..58626342,2	K562	blood:
4	chr15:58615644..58618290-chr15:58625044..58627431,2	K562	blood:
5	chr15:58624699..58626357-chr15:58758259..58760422,2	MCF-7	breast:
6	chr15:58613929..58616800-chr15:58624666..58626264,2	MCF-7	breast:
7	chr15:58624527..58626111-chr15:58750898..58753049,2	K562	blood:
8	chr15:58621217..58623761-chr15:58624859..58627813,2	MCF-7	breast:
9	chr15:58625329..58627247-chr15:58636913..58638829,3	MCF-7	breast:
10	chr15:58625565..58627627-chr15:59040149..59042801,2	MCF-7	breast:
11	chr15:58518633..58520407-chr15:58624416..58626222,2	K562	blood:
12	chr15:58623889..58626326-chr15:58704441..58709164,4	K562	blood:
13	chr15:58518907..58522119-chr15:58624457..58627687,4	K562	blood:
14	chr15:58624606..58626295-chr15:58688208..58690512,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000137845	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1037040	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637094	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855002	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1373660	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17821220	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17821226	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1816879	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs187774	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs261269	0.83[EUR][1000 genomes]
rs261271	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs500590	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56080561	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56195705	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56249653	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788636	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58622000-58627200	Enhancers	Placenta	Placenta
2	chr15:58623200-58626200	Flanking Active TSS	A549	lung
3	chr15:58624200-58626200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:58624200-58626200	Enhancers	NHDF-Ad	bronchial
5	chr15:58624400-58626400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:58624400-58626600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:58624600-58627800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:58625000-58626600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:58625000-58643200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:58625200-58626400	Enhancers	Hela-S3	cervix
11	chr15:58625200-58627000	Weak transcription	Spleen	Spleen
12	chr15:58625400-58626200	Enhancers	HepG2	liver
13	chr15:58625400-58628000	Weak transcription	Fetal Kidney	kidney
14	chr15:58625400-58628800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:58625600-58626600	ZNF genes & repeats	K562	blood
16	chr15:58625800-58627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:58625800-58627000	Weak transcription	Esophagus	oesophagus
18	chr15:58625800-58629200	Weak transcription	Psoas Muscle	Psoas
19	chr15:58626000-58626200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr15:58626000-58626400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:58626000-58627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:58626000-58627000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:58626000-58627000	Weak transcription	Pancreas	Pancrea
24	chr15:58626000-58634800	Weak transcription	NHLF	lung
25	chr15:58626000-58638200	Weak transcription	HSMMtube	muscle

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