Variant report

Variant	rs8028129
Chromosome Location	chr15:75404506-75404507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr15:75404356-75405994	GM12878	blood:	n/a	n/a
2	MTA3	chr15:75404476-75405885	GM12878	blood:	n/a	n/a
3	ATF2	chr15:75404336-75405761	GM12878	blood:	n/a	n/a
4	GATA1	chr15:75404458-75405693	K562	blood:	n/a	chr15:75404752-75404765
5	TEAD4	chr15:75404491-75405020	K562	blood:	n/a	n/a
6	FOXM1	chr15:75404391-75405760	GM12878	blood:	n/a	n/a
7	JUN	chr15:75404393-75405798	K562	blood:	n/a	chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404708-75404716
8	STAT5A	chr15:75404489-75404990	K562	blood:	n/a	n/a
9	NFIC	chr15:75404475-75405883	GM12878	blood:	n/a	n/a
10	ARID3A	chr15:75404493-75404962	K562	blood:	n/a	n/a
11	POLR2A	chr15:75404378-75405169	GM12878	blood:	n/a	n/a
12	JUN	chr15:75404473-75404937	K562	blood:	n/a	chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404707-75404717 chr15:75404708-75404716

Variant related genes	Relation type
ENSG00000260152	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11854975	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898551	0.81[AMR][1000 genomes]
rs12900072	0.81[AMR][1000 genomes]
rs12910558	0.80[EUR][1000 genomes]
rs2304902	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35078352	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886417	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4886648	0.81[AMR][1000 genomes]
rs4886655	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62027288	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7163362	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181261	0.87[AMR][1000 genomes];0.85[ASN][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8028129	SCAMP5	cis	Artery Tibial	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75395600-75405800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:75396600-75405600	Enhancers	Primary hematopoietic stem cells	blood
3	chr15:75396600-75406200	Enhancers	Primary B cells from cord blood	blood
4	chr15:75397600-75406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:75397600-75415800	Weak transcription	Ovary	ovary
6	chr15:75400400-75404600	Enhancers	Fetal Thymus	thymus
7	chr15:75401000-75405000	Weak transcription	Adipose Nuclei	Adipose
8	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:75401600-75404800	Weak transcription	HepG2	liver
10	chr15:75401800-75408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:75402200-75406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:75402400-75404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:75402400-75406600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:75402400-75406600	Weak transcription	Lung	lung
15	chr15:75402600-75406600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:75403200-75405400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:75403400-75404800	Enhancers	K562	blood
18	chr15:75403600-75404800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:75403600-75406600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:75403800-75406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:75403800-75406600	Weak transcription	Spleen	Spleen
22	chr15:75404400-75404600	Enhancers	Pancreas	Pancrea
23	chr15:75404400-75404800	Enhancers	Placenta	Placenta
24	chr15:75404400-75404800	Enhancers	Stomach Mucosa	stomach
25	chr15:75404400-75405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:75404400-75405400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:75404400-75405400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:75404400-75405600	Enhancers	Fetal Intestine Large	intestine
29	chr15:75404400-75405600	Enhancers	Hela-S3	cervix
30	chr15:75404400-75405800	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:75404400-75406000	Enhancers	Fetal Intestine Small	intestine
32	chr15:75404400-75406200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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