Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:31145390..31148497-chr4:31150587..31153361,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10013484	0.84[EUR][1000 genomes]
rs10028386	0.85[EUR][1000 genomes]
rs10030161	0.84[EUR][1000 genomes]
rs1044352	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1044353	0.86[EUR][1000 genomes]
rs1463847	0.85[EUR][1000 genomes]
rs1463848	0.85[EUR][1000 genomes]
rs1463849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1499476	0.89[EUR][1000 genomes]
rs16884451	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16884471	0.83[EUR][1000 genomes]
rs16884473	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1827140	0.82[EUR][1000 genomes]
rs1827141	0.86[EUR][1000 genomes]
rs1846526	0.90[EUR][1000 genomes]
rs28483036	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3857021	0.85[EUR][1000 genomes]
rs4692500	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6448743	0.84[EUR][1000 genomes]
rs6448744	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6820584	0.90[EUR][1000 genomes]
rs6834969	0.85[EUR][1000 genomes]
rs7655744	0.85[EUR][1000 genomes]
rs7671046	0.85[EUR][1000 genomes]
rs7674487	0.89[EUR][1000 genomes]
rs7674790	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7693529	0.85[EUR][1000 genomes]
rs9996642	0.85[EUR][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	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1007884	chr4:31071934-31680623	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007145	chr4:31079681-31670541	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv491749	chr4:31103307-31645668	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Epilepsy	25087078	GWAS catalog

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31143000-31151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:31145600-31154400	Weak transcription	Fetal Heart	heart
3	chr4:31149200-31151800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:31149400-31151400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:31149600-31151600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:31150000-31151600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:31150400-31151400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:31151000-31151800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:31151200-31151400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

Quick Search: