Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1030831	0.88[CHB][hapmap]
rs1374491	0.89[CHB][hapmap]
rs1699380	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs1699384	0.89[CHB][hapmap]
rs1699387	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1699391	0.89[CHB][hapmap]
rs1699393	0.89[CHB][hapmap]
rs1709419	0.80[ASN][1000 genomes]
rs1756012	0.89[CHB][hapmap]
rs1757925	0.88[CHB][hapmap]
rs1757928	0.88[CHB][hapmap]
rs1757935	0.89[CHB][hapmap]
rs1854773	0.89[CHB][hapmap]
rs1854774	0.89[CHB][hapmap]
rs189235	0.80[ASN][1000 genomes]
rs2655310	0.88[CHB][hapmap]
rs3099899	0.89[CHB][hapmap]
rs337263	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs337275	0.96[ASN][1000 genomes]
rs337277	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs389376	0.89[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs390260	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs391396	0.84[ASN][1000 genomes]
rs395864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs426521	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs445294	0.80[ASN][1000 genomes]
rs4466058	0.89[CHB][hapmap]
rs474667	0.80[ASN][1000 genomes]
rs474794	0.80[ASN][1000 genomes]
rs487233	0.84[ASN][1000 genomes]
rs487501	0.84[ASN][1000 genomes]
rs4975193	0.88[CHB][hapmap]
rs517659	0.95[ASN][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv511266	chr4:130060230-130072652	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv32610	chr4:130062342-130065491	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17014265	C4orf33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060200-130065800	Weak transcription	K562	blood
2	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
4	chr4:130063200-130065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search: