Variant report

Variant	rs1515754
Chromosome Location	chr17:45267629-45267630
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	BACH1	chr17:45267624-45267813	K562	blood:	n/a	n/a
2	NR2F2	chr17:45265332-45267743	K562	blood:	n/a	n/a
3	IRF1	chr17:45266120-45268008	K562	blood:	n/a	chr17:45267928-45267938 chr17:45267398-45267412 chr17:45266840-45266854 chr17:45267922-45267939 chr17:45267928-45267942 chr17:45267924-45267938 chr17:45266838-45266852 chr17:45267401-45267418 chr17:45267927-45267939
4	JUN	chr17:45265467-45268646	K562	blood:	n/a	chr17:45266621-45266629 chr17:45265547-45265555 chr17:45266398-45266407 chr17:45265547-45265554
5	GATA1	chr17:45266205-45268128	PBDE	blood:	n/a	chr17:45267318-45267325 chr17:45267318-45267328 chr17:45267308-45267324 chr17:45267308-45267324 chr17:45266480-45266488
6	POLR2A	chr17:45265385-45267716	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
2	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11570460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941584	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17604704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1515754	RP11-156P1.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45266800-45268200	Weak transcription	Lung	lung
2	chr17:45266800-45270200	Weak transcription	Small Intestine	intestine
3	chr17:45266800-45277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:45267200-45268000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:45267200-45268000	Weak transcription	Colonic Mucosa	Colon
6	chr17:45267200-45268000	Weak transcription	HSMMtube	muscle
7	chr17:45267200-45268400	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45267200-45268400	Weak transcription	Placenta	Placenta
9	chr17:45267200-45268800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:45267200-45268800	Weak transcription	Stomach Mucosa	stomach
11	chr17:45267200-45269000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:45267200-45269000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:45267200-45269200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:45267200-45269400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr17:45267200-45270000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr17:45267200-45270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:45267200-45270200	Weak transcription	HSMM	muscle
18	chr17:45267200-45275000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:45267200-45277200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:45267400-45267800	Enhancers	A549	lung
21	chr17:45267400-45267800	Flanking Active TSS	K562	blood
22	chr17:45267400-45268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:45267400-45268000	Enhancers	HepG2	liver
24	chr17:45267400-45268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:45267400-45269400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:45267400-45269400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:45267400-45269400	Weak transcription	GM12878-XiMat	blood
28	chr17:45267400-45269600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:45267400-45270000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:45267400-45270000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr17:45267400-45270000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr17:45267600-45267800	Enhancers	Hela-S3	cervix
33	chr17:45267600-45268200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:45267600-45270200	Weak transcription	Primary B cells from cord blood	blood

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