Variant report

Variant	rs28738845
Chromosome Location	chr15:99944290-99944291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr15:99943789-99944359	ECC-1	luminal epithelium:	n/a	n/a
2	USF1	chr15:99943835-99944366	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:99942972..99945321-chr15:99949749..99952573,2	K562	blood:
2	chr15:99942024..99944742-chr15:99948131..99949840,2	MCF-7	breast:
3	chr15:99943334..99944866-chr15:99950624..99952403,2	MCF-7	breast:
4	chr15:99939354..99941055-chr15:99942585..99945201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259760	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1561867	1.00[AMR][1000 genomes]
rs28401581	1.00[AMR][1000 genomes]
rs28538075	1.00[AMR][1000 genomes]
rs28625704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627884	1.00[AMR][1000 genomes]
rs28703866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4965232	1.00[AMR][1000 genomes]
rs4965456	1.00[AMR][1000 genomes]
rs4965457	1.00[AMR][1000 genomes]
rs56666565	1.00[AMR][1000 genomes]
rs58562373	1.00[AMR][1000 genomes]
rs58649201	1.00[AMR][1000 genomes]
rs59299420	1.00[AMR][1000 genomes]
rs60632743	1.00[AMR][1000 genomes]
rs73473392	1.00[AMR][1000 genomes]
rs73476566	1.00[AMR][1000 genomes]
rs73476567	1.00[AMR][1000 genomes]
rs73476570	1.00[AMR][1000 genomes]
rs73476572	1.00[AMR][1000 genomes]
rs73476579	1.00[AMR][1000 genomes]
rs73476580	1.00[AMR][1000 genomes]
rs73476583	1.00[AMR][1000 genomes]
rs73476584	1.00[AMR][1000 genomes]
rs73476586	1.00[AMR][1000 genomes]
rs73476597	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904547	chr15:99940221-99979159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904548	chr15:99940221-99979418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99915200-99947400	Weak transcription	Thymus	Thymus
2	chr15:99940600-99948400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:99941600-99945000	Enhancers	Fetal Muscle Leg	muscle
4	chr15:99942200-99944400	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:99942600-99945000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:99942600-99945000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:99942800-99948200	Weak transcription	Right Atrium	heart
8	chr15:99942800-99948400	Weak transcription	Stomach Mucosa	stomach
9	chr15:99943000-99944600	Enhancers	HepG2	liver
10	chr15:99943000-99946000	Weak transcription	Fetal Thymus	thymus
11	chr15:99943000-99947600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:99943000-99947800	Weak transcription	Fetal Brain Male	brain
13	chr15:99943000-99947800	Weak transcription	Fetal Heart	heart
14	chr15:99943000-99947800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr15:99943000-99948000	Weak transcription	Fetal Lung	lung
16	chr15:99943000-99948000	Weak transcription	Right Ventricle	heart
17	chr15:99943000-99948000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:99943000-99948200	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:99943000-99948200	Weak transcription	Esophagus	oesophagus
20	chr15:99943000-99948200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:99943000-99948400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:99943200-99944600	Weak transcription	Placenta	Placenta
23	chr15:99943200-99947400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:99943600-99948400	Weak transcription	Lung	lung
25	chr15:99943600-99948600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:99943800-99944800	Enhancers	HSMMtube	muscle
27	chr15:99943800-99948800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:99944000-99944800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:99944000-99944800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:99944200-99948400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:99944200-99948600	Weak transcription	Hela-S3	cervix

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