Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213392043..213394903-chr2:213396609..213399566,4	MCF-7	breast:
2	chr2:213392919..213394585-chr2:213396394..213398532,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1026882	0.93[ASN][1000 genomes]
rs1351592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1351593	0.84[EUR][1000 genomes]
rs1351594	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1384293	0.97[ASN][1000 genomes]
rs1384294	0.91[ASN][1000 genomes]
rs1384295	0.91[ASN][1000 genomes]
rs1531788	0.95[ASN][1000 genomes]
rs16848751	0.95[ASN][1000 genomes]
rs16848753	0.84[EUR][1000 genomes]
rs1905139	0.93[ASN][1000 genomes]
rs1947932	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2128323	0.84[EUR][1000 genomes]
rs2178575	0.84[EUR][1000 genomes]
rs2178576	0.84[EUR][1000 genomes]
rs4233986	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672648	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6435708	0.84[EUR][1000 genomes]
rs6435709	0.84[EUR][1000 genomes]
rs6724920	0.84[EUR][1000 genomes]
rs6745293	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6761143	0.84[EUR][1000 genomes]
rs7556832	0.93[ASN][1000 genomes]
rs7561571	0.84[EUR][1000 genomes]
rs7564590	0.95[ASN][1000 genomes]
rs7565622	0.93[ASN][1000 genomes]
rs7571642	0.84[EUR][1000 genomes]
rs7573568	0.84[EUR][1000 genomes]
rs7598042	0.84[EUR][1000 genomes]
rs979124	0.91[ASN][1000 genomes]
rs979125	0.89[EUR][1000 genomes];0.95[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213391600-213399200	Enhancers	Fetal Heart	heart
2	chr2:213393000-213399000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:213393200-213399000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
7	chr2:213395400-213398200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:213395400-213398800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:213396000-213399000	Weak transcription	Aorta	Aorta
10	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:213397000-213398200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:213397000-213399000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:213397600-213398600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:213397600-213400200	Enhancers	Brain Anterior Caudate	brain

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