Variant report

Variant	rs6504778
Chromosome Location	chr17:45292970-45292971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45265464..45268505-chr17:45290977..45295221,4	K562	blood:
2	chr17:45290405..45293270-chr17:45298817..45300612,2	K562	blood:
3	chr17:45281266..45284177-chr17:45290868..45295313,4	K562	blood:
4	chr17:45290579..45293565-chr17:45317348..45318861,2	K562	blood:
5	chr17:45292471..45294928-chr17:45296732..45298515,2	K562	blood:

Variant related genes	Relation type
ENSG00000252088	Chromatin interaction
ENSG00000004897	Chromatin interaction
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11570469	1.00[AMR][1000 genomes]
rs11570492	0.87[YRI][hapmap]
rs11869037	0.87[AFR][1000 genomes]
rs57661742	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217466	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	0.87[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327198	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	1.00[AMR][1000 genomes]
rs73329111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:45288400-45302000	Weak transcription	HSMM	muscle
5	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:45290600-45295000	Strong transcription	HSMMtube	muscle
7	chr17:45290800-45296200	Weak transcription	Right Atrium	heart
8	chr17:45291200-45294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:45291400-45294400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:45291400-45294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45291800-45295200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:45291800-45295800	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:45292600-45295200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:45292800-45293000	Flanking Active TSS	Fetal Heart	heart
15	chr17:45292800-45295400	Weak transcription	K562	blood
16	chr17:45292800-45297600	Weak transcription	Fetal Brain Male	brain

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