Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180630128..180633028-chr2:180639169..180641333,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17774088	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2171190	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4390734	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4556941	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4558554	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180369	0.96[EUR][1000 genomes]
rs62180372	0.96[EUR][1000 genomes]
rs62180373	0.94[EUR][1000 genomes]
rs62180377	0.96[EUR][1000 genomes]
rs62180379	0.96[EUR][1000 genomes]
rs62180380	0.96[EUR][1000 genomes]
rs62180381	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62180383	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180384	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180385	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180386	0.93[EUR][1000 genomes]
rs62180387	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180388	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180389	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180390	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180393	0.93[EUR][1000 genomes]
rs62180408	0.91[EUR][1000 genomes]
rs62181522	0.94[EUR][1000 genomes]
rs62181527	0.96[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180629400-180631200	Weak transcription	Liver	Liver
2	chr2:180629600-180633200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:180630000-180631200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:180630000-180631200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:180630000-180631800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:180630000-180632200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:180630000-180632200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:180630200-180631200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:180630200-180632200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:180630600-180631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:180630800-180631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:180630800-180633400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:180631000-180632000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:180631000-180633200	Weak transcription	Skeletal Muscle Male	skeletal muscle

Quick Search: