Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:180664595..180667266-chr2:180669827..180672570,2	K562	blood:
2	chr2:180663219..180666170-chr2:180666828..180669197,2	K562	blood:
3	chr2:180658967..180660810-chr2:180663202..180665986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144331	Chromatin interaction

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

rs_ID	r²[population]
rs10183495	0.92[CEU][hapmap]
rs10185471	0.92[CEU][hapmap]
rs10195952	0.88[CEU][hapmap]
rs12328338	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs13399189	0.84[CEU][hapmap]
rs13407401	0.88[CEU][hapmap]
rs1351416	0.92[CEU][hapmap]
rs1352111	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1480706	0.88[CEU][hapmap]
rs1480707	0.92[CEU][hapmap]
rs1486233	0.80[EUR][1000 genomes]
rs16867045	0.81[CEU][hapmap]
rs1906012	0.96[CEU][hapmap];0.86[CHB][hapmap]
rs2219670	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs357711	0.96[ASN][1000 genomes]
rs357712	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs357714	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs55869281	0.82[AMR][1000 genomes]
rs56388438	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6433810	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6433811	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7570985	0.88[CEU][hapmap]
rs7573137	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs7588510	0.88[CEU][hapmap]
rs7601013	0.85[CEU][hapmap]
rs7607354	0.88[CEU][hapmap]
rs966440	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180655600-180669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180665400-180666000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:180665400-180666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:180665600-180666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:180665600-180667000	Enhancers	Fetal Brain Male	brain
6	chr2:180665800-180666200	Enhancers	H9 Cell Line	embryonic stem cell

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