Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223466163..223468186-chr1:223469482..223472172,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1095170	0.89[EUR][1000 genomes]
rs1341291	0.84[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1356481	0.92[EUR][1000 genomes]
rs1356482	0.92[EUR][1000 genomes]
rs1713218	0.85[YRI][hapmap]
rs17161993	0.89[ASW][hapmap];0.84[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161994	0.89[ASW][hapmap];0.84[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17163762	0.84[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs17163773	0.84[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs17163774	0.82[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs17576822	0.90[YRI][hapmap]
rs2203763	0.80[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2253649	0.85[YRI][hapmap]
rs2678367	0.87[EUR][1000 genomes]
rs2795063	0.84[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs34013846	0.92[EUR][1000 genomes]
rs34283624	0.91[EUR][1000 genomes]
rs34782082	0.91[EUR][1000 genomes]
rs34788475	0.90[EUR][1000 genomes]
rs35345711	0.87[EUR][1000 genomes]
rs4661252	0.89[EUR][1000 genomes]
rs6662301	0.88[EUR][1000 genomes]
rs825126	0.80[YRI][hapmap]

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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv518979	chr1:223468336-223488310	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17518279	SUSD4	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223443800-223472600	Weak transcription	Gastric	stomach
2	chr1:223459000-223474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:223460800-223473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:223464400-223472800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:223466400-223471800	Weak transcription	Ovary	ovary
6	chr1:223466400-223480400	Weak transcription	Pancreas	Pancrea
7	chr1:223468600-223472000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:223469200-223472000	Strong transcription	Primary T cells from cord blood	blood
9	chr1:223469600-223470000	Strong transcription	Esophagus	oesophagus
10	chr1:223469600-223470000	Strong transcription	Pancreatic Islets	Pancreatic Islet

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