Variant report

Variant	rs504748
Chromosome Location	chr1:175793529-175793530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175792301..175794135-chr1:175797353..175799704,2	K562	blood:
2	chr1:175345039..175345551-chr1:175793110..175793983,2	K562	blood:
3	chr1:175449652..175450434-chr1:175792990..175793754,2	K562	blood:
4	chr1:175342691..175343565-chr1:175792937..175793994,6	K562	blood:
5	chr1:175450058..175450683-chr1:175793398..175794082,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs475143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs485654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs515031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs537560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs562631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61169187	0.93[EUR][1000 genomes]
rs72709203	0.87[EUR][1000 genomes]
rs72709205	0.93[EUR][1000 genomes]
rs72709207	0.93[EUR][1000 genomes]
rs72709212	0.93[EUR][1000 genomes]
rs72709218	0.93[EUR][1000 genomes]
rs72709224	0.93[EUR][1000 genomes]
rs72709226	0.93[EUR][1000 genomes]
rs72709228	0.93[EUR][1000 genomes]
rs72709229	0.93[EUR][1000 genomes]
rs72709230	0.93[EUR][1000 genomes]
rs72709231	0.93[EUR][1000 genomes]
rs72709233	0.93[EUR][1000 genomes]
rs72709234	0.93[EUR][1000 genomes]
rs72709236	0.93[EUR][1000 genomes]
rs72709237	0.93[EUR][1000 genomes]
rs72709245	0.93[EUR][1000 genomes]
rs72709246	0.93[EUR][1000 genomes]
rs72709250	0.93[EUR][1000 genomes]
rs72709253	0.93[EUR][1000 genomes]
rs72709257	0.93[EUR][1000 genomes]
rs72709260	0.93[EUR][1000 genomes]
rs72709261	0.93[EUR][1000 genomes]
rs72709265	0.93[EUR][1000 genomes]
rs72709266	0.93[EUR][1000 genomes]
rs72709269	0.93[EUR][1000 genomes]
rs72709270	0.93[EUR][1000 genomes]
rs72709271	0.93[EUR][1000 genomes]
rs72709274	0.93[EUR][1000 genomes]
rs72709275	0.93[EUR][1000 genomes]
rs72709276	0.93[EUR][1000 genomes]
rs72709278	0.81[EUR][1000 genomes]
rs72709279	0.93[EUR][1000 genomes]
rs72709282	0.93[EUR][1000 genomes]
rs72709283	0.93[EUR][1000 genomes]
rs72709285	0.93[EUR][1000 genomes]
rs72709287	0.93[EUR][1000 genomes]
rs72709289	0.93[EUR][1000 genomes]
rs72709290	0.93[EUR][1000 genomes]
rs72709292	0.93[EUR][1000 genomes]
rs72709293	0.93[EUR][1000 genomes]
rs72709295	0.93[EUR][1000 genomes]
rs72709296	0.93[EUR][1000 genomes]
rs72709299	0.93[EUR][1000 genomes]
rs72709300	0.93[EUR][1000 genomes]
rs72709302	0.93[EUR][1000 genomes]
rs72711103	0.93[EUR][1000 genomes]
rs72711105	0.93[EUR][1000 genomes]
rs72711106	0.93[EUR][1000 genomes]
rs72711107	0.93[EUR][1000 genomes]
rs72711108	0.93[EUR][1000 genomes]
rs72711109	0.93[EUR][1000 genomes]
rs72711110	0.93[EUR][1000 genomes]
rs72711111	0.93[EUR][1000 genomes]
rs72711113	0.93[EUR][1000 genomes]
rs72711116	0.87[EUR][1000 genomes]
rs72711117	0.86[EUR][1000 genomes]
rs72711119	0.86[EUR][1000 genomes]
rs72711120	0.86[EUR][1000 genomes]
rs72727638	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175791200-175794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:175791400-175793600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:175792800-175793600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:175793000-175793800	Weak transcription	Placenta	Placenta
5	chr1:175793200-175793600	Enhancers	Left Ventricle	heart
6	chr1:175793400-175793600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:175793400-175799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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