Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151491359..151493092-chr5:151503050..151505750,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11167572	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11747825	0.82[EUR][1000 genomes]
rs154100	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs154101	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs154104	0.90[AMR][1000 genomes]
rs154105	0.87[AMR][1000 genomes]
rs154687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17735620	0.82[EUR][1000 genomes]
rs1895312	1.00[YRI][hapmap]
rs1895314	1.00[YRI][hapmap]
rs1946486	0.82[EUR][1000 genomes]
rs253731	0.82[EUR][1000 genomes]
rs256157	0.82[EUR][1000 genomes]
rs29839	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29840	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs29844	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs40559	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs434926	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs528346	0.87[AMR][1000 genomes]
rs62396575	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020899	chr5:151412785-151516788	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2760935	chr5:151463117-151586051	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv883039	chr5:151471642-151540888	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv883040	chr5:151471642-151596273	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5072	chr5:151490271-151530419	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs29841	KIF4B	cis	cerebellum	SCAN
rs29841	AFAP1L1	cis	parietal	SCAN
rs29841	ANXA6	cis	cerebellum	SCAN
rs29841	SLC6A7	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151502600-151505600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:151502600-151506200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:151502800-151504600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:151502800-151504600	Enhancers	Ovary	ovary
5	chr5:151502800-151504800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:151502800-151505000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:151502800-151505000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:151502800-151505600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:151503000-151504400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:151503000-151504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:151503200-151504400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:151503400-151504400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:151504000-151504600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

Quick Search: