Variant report

Variant	rs1679800
Chromosome Location	chr14:56495415-56495416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56489100..56490654-chr14:56494380..56496682,2	MCF-7	breast:
2	chr14:56492963..56495703-chr14:56498948..56501320,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1188188	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1188194	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1188196	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1188198	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1188199	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1188200	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1188203	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1188204	0.81[CEU][hapmap]
rs1201387	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1211177	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1211455	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1212200	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1212974	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12432868	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1480650	0.89[ASN][1000 genomes]
rs1480657	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1480658	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1480659	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1623669	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1630156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1679801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1679807	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1679809	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1679810	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1679811	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1756622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1756624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1756625	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1756628	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1756630	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1756631	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1952892	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60269373	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs922655	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1679800	ACTR10	cis	cerebellum	SCAN
rs1679800	PELI2	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56491000-56495800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:56492400-56497000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56494000-56495600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:56494200-56496200	Enhancers	Colon Smooth Muscle	Colon
5	chr14:56494200-56496800	Enhancers	Psoas Muscle	Psoas
6	chr14:56495000-56495600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:56495000-56495600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:56495000-56496800	Enhancers	Aorta	Aorta
9	chr14:56495400-56495600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:56495400-56495600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:56495400-56495600	Flanking Active TSS	Ovary	ovary
12	chr14:56495400-56496200	Enhancers	Rectal Smooth Muscle	rectum

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