Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:

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

rs_ID	r²[population]
rs2451818	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457221	0.90[EUR][1000 genomes]
rs2459726	0.85[CEU][hapmap]
rs257970	0.84[CEU][hapmap]
rs257981	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258049	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258052	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26181	0.83[CEU][hapmap]
rs26184	0.84[CEU][hapmap]
rs2636961	0.80[CEU][hapmap]
rs2636964	0.82[CEU][hapmap]
rs2636968	0.84[CEU][hapmap]
rs27938	0.85[CEU][hapmap]
rs32640	0.80[AFR][1000 genomes]
rs382719	0.89[CEU][hapmap]
rs422297	0.89[CEU][hapmap]
rs426899	0.96[CEU][hapmap]
rs455318	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs461108	0.82[EUR][1000 genomes]
rs462756	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs463098	0.84[CEU][hapmap]
rs465091	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs467076	0.92[ASN][1000 genomes]
rs4895191	0.86[EUR][1000 genomes]
rs6875595	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7720373	0.83[EUR][1000 genomes]
rs7720678	0.83[EUR][1000 genomes]
rs7721602	0.89[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2451804	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118761400-118765000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118761800-118764600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:118761800-118764800	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:118762200-118764600	Enhancers	K562	blood
5	chr5:118762600-118764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118762800-118764600	Enhancers	Stomach Mucosa	stomach
7	chr5:118763200-118764600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:118763800-118773000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118764400-118767000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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