Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180502057..180505158-chr1:180505270..180507785,3	K562	blood:
2	chr1:180502690..180506275-chr1:180600837..180603049,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55660948	0.80[EUR][1000 genomes]
rs55912749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079047	0.95[EUR][1000 genomes]
rs56333717	0.80[EUR][1000 genomes]
rs67466592	1.00[ASN][1000 genomes]
rs72714872	0.80[EUR][1000 genomes]
rs72714883	0.80[EUR][1000 genomes]
rs72714890	0.80[EUR][1000 genomes]
rs72714891	0.80[EUR][1000 genomes]
rs72714892	0.80[EUR][1000 genomes]
rs72714894	0.80[EUR][1000 genomes]
rs72714896	0.80[EUR][1000 genomes]
rs72716605	0.80[EUR][1000 genomes]
rs72716637	0.80[EUR][1000 genomes]
rs72720921	0.90[EUR][1000 genomes]
rs72720930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720941	0.83[EUR][1000 genomes]
rs72720943	0.83[EUR][1000 genomes]
rs7548652	0.92[AFR][1000 genomes]
rs7551634	0.92[AFR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
3	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
4	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
5	chr1:180500000-180505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:180500600-180505600	Weak transcription	Placenta	Placenta
8	chr1:180502600-180506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:180502600-180506200	Enhancers	K562	blood
10	chr1:180502800-180506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:180502800-180506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:180503200-180508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:180503600-180506200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:180503600-180510200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:180503800-180505600	Weak transcription	Fetal Heart	heart
16	chr1:180503800-180505800	Weak transcription	Pancreas	Pancrea
17	chr1:180504000-180509000	Weak transcription	HMEC	breast
18	chr1:180504200-180505200	Weak transcription	Left Ventricle	heart

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