Variant report

Variant	rs12566318
Chromosome Location	chr1:86068884-86068885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
2	chr1:86044046..86050058-chr1:86065602..86074449,16	MCF-7	breast:
3	chr1:86067788..86069598-chr1:86069646..86072509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12566306	0.86[JPT][hapmap]
rs2297138	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs2297139	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs55679600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55750909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6659670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9658584	0.88[CEU][hapmap];0.85[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:86063000-86069400	Weak transcription	Fetal Lung	lung
4	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:86065000-86071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:86065200-86071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:86065200-86072000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:86065800-86069000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:86066600-86077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:86067600-86069000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:86068000-86074600	Enhancers	Fetal Intestine Small	intestine
12	chr1:86068200-86070600	Enhancers	Fetal Stomach	stomach
13	chr1:86068400-86069000	Enhancers	Dnd41	blood
14	chr1:86068400-86072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:86068400-86072400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:86068400-86074800	Enhancers	Fetal Intestine Large	intestine
17	chr1:86068600-86069000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:86068600-86070400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:86068800-86070000	Enhancers	HepG2	liver
20	chr1:86068800-86071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:86068800-86071400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:86068800-86071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:86068800-86072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:86068800-86072200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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