Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:180628206..180630948-chr2:180635078..180637285,2	K562	blood:
2	chr2:180635759..180637843-chr2:180643874..180645824,2	MCF-7	breast:
3	chr2:180636066..180638013-chr2:180660041..180662260,2	K562	blood:

Variant related genes	Relation type
ENSG00000144331	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1139	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs12052744	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12052765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12053119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12465379	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12466207	0.93[ASN][1000 genomes]
rs12472888	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12473571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1385972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1533384	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866968	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs16866986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16866987	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16866991	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs16866992	0.92[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs28404240	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs356407	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs55728092	0.86[ASN][1000 genomes]
rs58217303	0.82[ASN][1000 genomes]
rs7574345	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7592797	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7607561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180633800-180637200	Weak transcription	Fetal Lung	lung
2	chr2:180634400-180638400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:180634400-180638800	Weak transcription	Liver	Liver
4	chr2:180634600-180644000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:180635000-180643000	Weak transcription	Right Atrium	heart
6	chr2:180636200-180637800	Enhancers	Fetal Heart	heart
7	chr2:180636600-180637400	Enhancers	NHEK	skin

Quick Search: