Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213346530..213348548-chr2:213350642..213352540,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10168850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10178687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10180614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10194811	1.00[CHB][hapmap]
rs11675580	1.00[CHB][hapmap]
rs13015808	1.00[CHB][hapmap]
rs13389790	1.00[CHB][hapmap]
rs1354617	1.00[CHB][hapmap]
rs1384290	0.91[ASN][1000 genomes]
rs1384291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1505372	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16848556	1.00[CHB][hapmap]
rs16848564	1.00[CHB][hapmap]
rs16848571	1.00[CHB][hapmap]
rs16848593	1.00[CHB][hapmap]
rs16848661	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs16848675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17259208	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17325821	1.00[JPT][hapmap]
rs17329875	1.00[JPT][hapmap]
rs2062930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6735807	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs73063172	0.90[AFR][1000 genomes]
rs73063184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063189	1.00[ASN][1000 genomes]
rs73067074	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079459	0.97[EUR][1000 genomes]
rs73079470	0.97[EUR][1000 genomes]
rs7569142	1.00[JPT][hapmap]
rs9283525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[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	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213345600-213350600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:213346800-213349600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:213346800-213352400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:213347000-213349400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:213347000-213350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:213347400-213349400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:213347400-213349600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:213348000-213349400	Weak transcription	Fetal Heart	heart

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