Variant report

Variant	rs2786765
Chromosome Location	chr1:168741270-168741271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168678469..168680348-chr1:168740561..168743159,2	MCF-7	breast:
2	chr1:168740071..168742084-chr1:168874294..168876430,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1018453	0.93[JPT][hapmap]
rs1052591	0.93[JPT][hapmap]
rs12748557	0.93[JPT][hapmap]
rs1555206	0.93[JPT][hapmap]
rs1556790	0.90[JPT][hapmap]
rs1556791	0.93[JPT][hapmap]
rs1556792	0.93[JPT][hapmap]
rs1556793	0.93[JPT][hapmap]
rs17569416	0.93[JPT][hapmap]
rs1765516	0.93[JPT][hapmap]
rs2744658	0.81[CEU][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs2744665	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2786762	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2786766	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2786767	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472668	0.93[JPT][hapmap]
rs534139	0.93[JPT][hapmap]
rs538714	0.93[JPT][hapmap]
rs542198	0.88[GIH][hapmap];0.93[JPT][hapmap]
rs627872	0.88[GIH][hapmap];0.93[JPT][hapmap]
rs6427148	0.88[GIH][hapmap];0.93[JPT][hapmap]
rs655128	0.93[JPT][hapmap]
rs6701299	0.93[JPT][hapmap]
rs731949	0.93[JPT][hapmap]
rs926431	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
rs2786765	F5	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168730400-168743600	Weak transcription	Psoas Muscle	Psoas
2	chr1:168736200-168741800	Weak transcription	Stomach Mucosa	stomach
3	chr1:168736200-168743000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:168737800-168741800	Weak transcription	Adipose Nuclei	Adipose
5	chr1:168737800-168741800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:168737800-168741800	Weak transcription	HepG2	liver
7	chr1:168738000-168742800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:168738000-168743000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:168738000-168743400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:168738200-168742200	Weak transcription	Left Ventricle	heart
11	chr1:168738600-168741800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:168738600-168742000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:168738800-168741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:168738800-168741800	Weak transcription	Fetal Stomach	stomach
15	chr1:168738800-168745600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:168740200-168741800	Weak transcription	Ovary	ovary
17	chr1:168740800-168742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:168741000-168744000	Enhancers	Liver	Liver
19	chr1:168741200-168741600	Weak transcription	Fetal Lung	lung
20	chr1:168741200-168743200	Weak transcription	Fetal Heart	heart
21	chr1:168741200-168744000	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:168741200-168744200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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