Variant report

Variant	rs13000748
Chromosome Location	chr2:213399670-213399671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212099679..212101187-chr2:213398262..213400932,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497975	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11888697	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11892661	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987104	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13000920	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13027397	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1505370	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1505371	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1505377	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17259910	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17261653	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17325612	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17327185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1921629	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1982717	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2062929	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2062931	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34511581	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34947061	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35610945	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56102637	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56387110	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62186292	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62186293	1.00[ASN][1000 genomes]
rs979452	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs982075	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:213397600-213400200	Enhancers	Brain Anterior Caudate	brain
5	chr2:213398400-213400000	Active TSS	Brain Germinal Matrix	brain
6	chr2:213398800-213399800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:213398800-213401000	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:213398800-213402600	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr2:213399000-213400800	Bivalent/Poised TSS	Fetal Brain Male	brain
10	chr2:213399200-213400200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:213399200-213400400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:213399200-213403800	Active TSS	Fetal Heart	heart
13	chr2:213399400-213399800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:213399400-213400800	Weak transcription	Psoas Muscle	Psoas
15	chr2:213399600-213400200	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:213399600-213400400	Weak transcription	Aorta	Aorta
17	chr2:213399600-213400600	Weak transcription	Brain Substantia Nigra	brain

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