Variant report

Variant	rs858674
Chromosome Location	chr17:45267493-45267494
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	ARID3A	chr17:45266342-45267543	K562	blood:	n/a	n/a
2	NR2F2	chr17:45265332-45267743	K562	blood:	n/a	n/a
3	EP300	chr17:45266166-45267590	K562	blood:	n/a	chr17:45266426-45266442
4	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
5	JUN	chr17:45265467-45268646	K562	blood:	n/a	chr17:45266621-45266629 chr17:45265547-45265555 chr17:45266398-45266407 chr17:45265547-45265554
6	GATA3	chr17:45267124-45267535	SH-SY5Y	brain:	n/a	chr17:45267318-45267325 chr17:45267318-45267328 chr17:45267308-45267324 chr17:45267308-45267324
7	GATA1	chr17:45266205-45268128	PBDE	blood:	n/a	chr17:45267318-45267325 chr17:45267318-45267328 chr17:45267308-45267324 chr17:45267308-45267324 chr17:45266480-45266488
8	POLR2A	chr17:45265385-45267716	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
2	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
3	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	Chromatin interaction
ENSG00000198336	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11079743	1.00[EUR][1000 genomes]
rs1634270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	1.00[EUR][1000 genomes]
rs221600	0.82[ASW][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3744452	1.00[EUR][1000 genomes]
rs3851783	1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs60521210	1.00[EUR][1000 genomes]
rs7211075	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73324419	1.00[AMR][1000 genomes]
rs73329161	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8080767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081202	1.00[EUR][1000 genomes]
rs908360	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893406	1.00[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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45266000-45267600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:45266800-45268200	Weak transcription	Lung	lung
3	chr17:45266800-45270200	Weak transcription	Small Intestine	intestine
4	chr17:45266800-45277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:45267200-45267600	Enhancers	Fetal Heart	heart
6	chr17:45267200-45267600	Flanking Active TSS	Hela-S3	cervix
7	chr17:45267200-45267600	Enhancers	HMEC	breast
8	chr17:45267200-45268000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:45267200-45268000	Weak transcription	Colonic Mucosa	Colon
10	chr17:45267200-45268000	Weak transcription	HSMMtube	muscle
11	chr17:45267200-45268400	Enhancers	Fetal Muscle Leg	muscle
12	chr17:45267200-45268400	Weak transcription	Placenta	Placenta
13	chr17:45267200-45268800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:45267200-45268800	Weak transcription	Stomach Mucosa	stomach
15	chr17:45267200-45269000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:45267200-45269000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:45267200-45269200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:45267200-45269400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr17:45267200-45270000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:45267200-45270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:45267200-45270200	Weak transcription	HSMM	muscle
22	chr17:45267200-45275000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:45267200-45277200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr17:45267400-45267600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45267400-45267600	Enhancers	Primary B cells from cord blood	blood
26	chr17:45267400-45267600	Enhancers	Dnd41	blood
27	chr17:45267400-45267800	Enhancers	A549	lung
28	chr17:45267400-45267800	Flanking Active TSS	K562	blood
29	chr17:45267400-45268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:45267400-45268000	Enhancers	HepG2	liver
31	chr17:45267400-45268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:45267400-45269400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:45267400-45269400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:45267400-45269400	Weak transcription	GM12878-XiMat	blood
35	chr17:45267400-45269600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45267400-45270000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:45267400-45270000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:45267400-45270000	Weak transcription	Monocytes-CD14+_RO01746	blood

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