Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75907353..75908974-chr4:75911952..75913665,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10518133	0.85[CEU][hapmap]
rs1346138	0.85[CEU][hapmap]
rs16997586	0.85[CEU][hapmap]
rs17000078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000108	0.85[CEU][hapmap]
rs17000109	0.85[CEU][hapmap]
rs17196260	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198085	1.00[ASN][1000 genomes]
rs17250403	0.85[CEU][hapmap]
rs17386703	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28582004	1.00[ASN][1000 genomes]
rs3775530	0.85[CEU][hapmap]
rs56823709	1.00[ASN][1000 genomes]
rs6824037	0.85[CEU][hapmap]
rs6838268	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660401	1.00[ASN][1000 genomes]
rs72860964	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860981	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863950	1.00[ASN][1000 genomes]
rs987055	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992064	1.00[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	nsv1005741	chr4:75327708-75913753	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537140	chr4:75327708-75913753	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1005324	chr4:75689880-76233555	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv537142	chr4:75689880-76233555	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17249558	DKFZP564O0823	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75876400-75929600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:75889800-75920800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:75902000-75914000	Weak transcription	Aorta	Aorta
4	chr4:75902000-75915600	Weak transcription	Pancreas	Pancrea
5	chr4:75902000-75929600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:75908400-75914600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:75909200-75913200	Weak transcription	Fetal Heart	heart
8	chr4:75909600-75913000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:75910600-75914000	Weak transcription	Right Atrium	heart
10	chr4:75910600-75920800	Weak transcription	Left Ventricle	heart
11	chr4:75912200-75914800	Weak transcription	Psoas Muscle	Psoas

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