Variant report

Variant	rs12063208
Chromosome Location	chr1:168741058-168741059
allele	A/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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10158946	0.94[EUR][1000 genomes]
rs10800380	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918979	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577775	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11801939	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060876	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12065214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065661	0.85[AFR][1000 genomes]
rs4656615	0.94[EUR][1000 genomes]
rs59684779	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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

No data

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	chr1:168737800-168741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:168737800-168741800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:168737800-168741800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:168737800-168741800	Weak transcription	HepG2	liver
8	chr1:168738000-168741200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:168738000-168742800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:168738000-168743000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:168738000-168743400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:168738200-168742200	Weak transcription	Left Ventricle	heart
13	chr1:168738600-168741800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:168738600-168742000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:168738800-168741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:168738800-168741800	Weak transcription	Fetal Stomach	stomach
17	chr1:168738800-168745600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:168740200-168741800	Weak transcription	Ovary	ovary
19	chr1:168740600-168741200	Enhancers	Fetal Heart	heart
20	chr1:168740600-168741200	Enhancers	Fetal Lung	lung
21	chr1:168740800-168742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:168741000-168744000	Enhancers	Liver	Liver

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