Variant report

Variant	rs72711130
Chromosome Location	chr1:175835858-175835859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:
2	chr1:175822157..175824950-chr1:175834242..175836093,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10913091	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12117735	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12118970	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1361521	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16849285	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849286	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs478276	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500894	0.89[EUR][1000 genomes]
rs524684	0.82[EUR][1000 genomes]
rs72711137	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175831400-175836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175831400-175836400	Enhancers	Brain Anterior Caudate	brain
3	chr1:175831600-175836200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:175831600-175837000	Enhancers	Brain Substantia Nigra	brain
5	chr1:175831600-175837200	Enhancers	Brain Angular Gyrus	brain
6	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:175831800-175836200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:175831800-175836200	Enhancers	Fetal Brain Male	brain
10	chr1:175832000-175836200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:175832800-175836200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:175833800-175836400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:175834200-175836000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:175834200-175837000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:175834400-175836000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:175834600-175839000	Enhancers	Brain Germinal Matrix	brain
17	chr1:175835000-175836000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:175835000-175836000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:175835000-175836000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:175835000-175836000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:175835000-175836200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:175835000-175836200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:175835000-175836200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:175835000-175841600	Weak transcription	Fetal Lung	lung
25	chr1:175835200-175836200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:175835200-175836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:175835600-175836200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:175835600-175840200	Weak transcription	Fetal Heart	heart
29	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
30	chr1:175835800-175836000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:175835800-175836800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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