Variant report

Variant	rs454499
Chromosome Location	chr15:58636985-58636986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58622107..58624468-chr15:58635303..58638116,2	MCF-7	breast:
2	chr15:58600524..58602216-chr15:58636813..58638903,2	MCF-7	breast:
3	chr15:58625329..58627247-chr15:58636913..58638829,3	MCF-7	breast:
4	chr15:58635844..58637579-chr15:58649793..58652306,2	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11071372	0.85[AMR][1000 genomes]
rs11854016	0.84[EUR][1000 genomes]
rs11855842	0.83[EUR][1000 genomes]
rs12324273	0.82[EUR][1000 genomes]
rs16940116	0.81[EUR][1000 genomes]
rs261329	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28604545	0.85[AMR][1000 genomes]
rs4775032	0.89[EUR][1000 genomes]
rs62001698	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62001709	0.82[EUR][1000 genomes]
rs62001710	0.82[EUR][1000 genomes]
rs68077377	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv1041779	chr15:58634768-58662280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr15:58625000-58643200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:58626000-58638200	Weak transcription	HSMMtube	muscle
3	chr15:58626200-58638400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:58627200-58638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:58629800-58638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:58632800-58638200	Weak transcription	HSMM	muscle
7	chr15:58632800-58638200	Weak transcription	NHDF-Ad	bronchial
8	chr15:58634400-58640400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:58634600-58638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:58635600-58638400	Enhancers	A549	lung
11	chr15:58635600-58638600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:58635800-58638200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:58636000-58637200	Weak transcription	NHLF	lung
14	chr15:58636000-58638800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr15:58636200-58638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:58636200-58638400	Enhancers	Fetal Thymus	thymus
17	chr15:58636400-58637200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:58636600-58637000	Flanking Active TSS	K562	blood
19	chr15:58636600-58637400	Enhancers	Placenta	Placenta
20	chr15:58636600-58637400	Enhancers	Thymus	Thymus
21	chr15:58636800-58638200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:58636800-58640600	Weak transcription	Fetal Kidney	kidney

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