Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35821954..35824313-chr5:35826710..35829187,2	K562	blood:

Variant related genes	Relation type
ENSG00000248969	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10063445	0.91[JPT][hapmap]
rs10074095	0.91[JPT][hapmap]
rs10074127	0.91[JPT][hapmap]
rs10461959	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs10941267	0.91[JPT][hapmap]
rs11567762	0.91[GIH][hapmap];0.91[MEX][hapmap]
rs12054998	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12516343	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12516866	0.85[JPT][hapmap]
rs13190625	1.00[ASW][hapmap]
rs1353251	1.00[ASW][hapmap];0.94[CEU][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.91[TSI][hapmap]
rs1353254	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389830	0.91[JPT][hapmap]
rs1494555	0.91[JPT][hapmap]
rs1494556	0.91[JPT][hapmap]
rs1494568	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1494569	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2201408	0.81[AMR][1000 genomes]
rs2361396	0.93[CEU][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3777090	0.91[JPT][hapmap]
rs4263524	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6862142	0.86[JPT][hapmap]
rs6893142	0.91[JPT][hapmap]
rs7709856	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7716064	0.91[JPT][hapmap]
rs903390	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9292616	0.91[JPT][hapmap]
rs9292617	0.91[JPT][hapmap]
rs991571	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1494567	TOMM7	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35816000-35829200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:35819000-35830200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:35819600-35835600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:35820000-35827800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr5:35820000-35827800	Enhancers	Fetal Thymus	thymus
6	chr5:35820400-35824200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:35821800-35824000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr5:35821800-35824200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr5:35822000-35823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:35822600-35823600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:35822800-35828000	Enhancers	Thymus	Thymus
12	chr5:35822800-35830800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:35823000-35825400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:35823000-35826200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:35823000-35830600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:35823200-35823600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr5:35823200-35823600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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