Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:28535055..28538009-chr6:28541570..28543876,2	K562	blood:
2	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
3	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
4	chr6:28532871..28537837-chr6:28545273..28547393,5	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11963067	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11965972	0.88[ASN][1000 genomes]
rs11970339	0.81[ASN][1000 genomes]
rs13217047	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13220637	0.81[ASN][1000 genomes]
rs16894194	0.81[ASN][1000 genomes]
rs16894197	0.81[ASN][1000 genomes]
rs16901848	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17336532	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1884936	0.81[ASN][1000 genomes]
rs1884937	0.81[ASN][1000 genomes]
rs2394121	0.81[ASN][1000 genomes]
rs2893966	0.81[ASN][1000 genomes]
rs34020953	0.81[ASN][1000 genomes]
rs34177106	0.81[ASN][1000 genomes]
rs34388845	0.91[ASN][1000 genomes]
rs34556183	0.88[ASN][1000 genomes]
rs35257859	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35466817	0.81[ASN][1000 genomes]
rs35546888	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36069097	0.83[ASN][1000 genomes]
rs36103239	0.88[ASN][1000 genomes]
rs4121091	0.81[ASN][1000 genomes]
rs41270599	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56389860	0.81[ASN][1000 genomes]
rs61229539	0.81[ASN][1000 genomes]
rs6923110	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6941188	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7767008	0.81[ASN][1000 genomes]
rs7775683	0.81[ASN][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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7742957	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs7742957	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs7742957	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28531800-28553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:28532000-28536400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:28532000-28552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:28534400-28537400	Enhancers	K562	blood
5	chr6:28534400-28543200	Weak transcription	Liver	Liver
6	chr6:28535000-28554000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:28535200-28537200	Enhancers	GM12878-XiMat	blood
8	chr6:28535400-28537400	Weak transcription	A549	lung

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