Variant report

Variant	rs7532726
Chromosome Location	chr1:209760936-209760937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209755400..209758215-chr1:209758415..209761254,2	K562	blood:
2	chr1:209754618..209756587-chr1:209758907..209761295,2	MCF-7	breast:
3	chr1:209717438..209719285-chr1:209759919..209762405,2	K562	blood:

Variant related genes	Relation type
ENSG00000008118	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11119312	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576233	0.83[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913818	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690557	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs713075	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528698	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541562	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429817	0.81[ASN][1000 genomes]
rs9429818	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429998	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429999	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430003	0.83[AMR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7532726	RP1-272L16.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209758200-209763200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:209759000-209761600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:209759400-209761600	Enhancers	NH-A	brain
4	chr1:209759400-209762000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:209759400-209762000	Weak transcription	Left Ventricle	heart
6	chr1:209759400-209762200	Weak transcription	Spleen	Spleen
7	chr1:209759600-209761000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr1:209759600-209761000	Weak transcription	HMEC	breast
9	chr1:209759600-209762200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:209759600-209762600	Weak transcription	Ovary	ovary
11	chr1:209759600-209763200	Weak transcription	HSMMtube	muscle
12	chr1:209759600-209763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:209759800-209761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:209759800-209763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:209759800-209763400	Enhancers	Hela-S3	cervix
16	chr1:209760000-209761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:209760000-209761200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:209760000-209761200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:209760000-209763600	Weak transcription	Fetal Brain Male	brain
20	chr1:209760200-209763800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:209760400-209762000	Weak transcription	Brain Anterior Caudate	brain
22	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
23	chr1:209760800-209761600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:209760800-209761600	Bivalent Enhancer	Placenta	Placenta
25	chr1:209760800-209761800	Bivalent Enhancer	HUVEC	blood vessel
26	chr1:209760800-209761800	Enhancers	NHEK	skin

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