Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210251892..210254829-chr2:210256212..210260046,3	MCF-7	breast:
2	chr2:210249928..210251802-chr2:210252037..210254525,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12986446	0.83[AMR][1000 genomes]
rs12991611	0.83[AMR][1000 genomes]
rs12995332	0.83[AMR][1000 genomes]
rs12998272	1.00[EUR][1000 genomes]
rs12999670	1.00[EUR][1000 genomes]
rs12999884	0.83[AMR][1000 genomes]
rs13002012	0.86[EUR][1000 genomes]
rs13007765	0.86[EUR][1000 genomes]
rs13012322	0.87[EUR][1000 genomes]
rs13017472	0.83[AMR][1000 genomes]
rs13022552	1.00[EUR][1000 genomes]
rs13023112	1.00[EUR][1000 genomes]
rs13032935	0.87[EUR][1000 genomes]
rs13036037	0.86[EUR][1000 genomes]
rs16842834	0.93[EUR][1000 genomes]
rs34445752	0.87[EUR][1000 genomes]
rs34578885	1.00[EUR][1000 genomes]
rs34636750	1.00[AMR][1000 genomes]
rs34719629	0.83[AMR][1000 genomes]
rs35203732	0.83[AMR][1000 genomes]
rs35216876	0.87[EUR][1000 genomes]
rs35289769	0.83[AMR][1000 genomes]
rs35347413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35358788	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35634353	0.83[AMR][1000 genomes]
rs35645004	0.83[AMR][1000 genomes]
rs35662507	0.83[AMR][1000 genomes]
rs35791583	0.83[AMR][1000 genomes]
rs35955770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35978314	0.93[EUR][1000 genomes]
rs59984943	1.00[EUR][1000 genomes]
rs67654534	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs67917650	0.86[EUR][1000 genomes]
rs73000407	0.83[AMR][1000 genomes]
rs73000497	0.83[AMR][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	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210248800-210256000	Weak transcription	NHLF	lung
2	chr2:210253000-210254600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:210253000-210254800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:210253600-210254400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:210253600-210254400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:210253800-210254400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:210253800-210254600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:210253800-210254600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210254000-210254400	Enhancers	Fetal Brain Female	brain
10	chr2:210254000-210256600	Weak transcription	Placenta Amnion	Placenta Amnion

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