Variant report

Variant	rs12025418
Chromosome Location	chr1:47944227-47944228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47943142..47945869-chr1:47977518..47980474,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11211540	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211542	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11800497	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12057975	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12073605	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1337524	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4926556	0.87[EUR][1000 genomes]
rs6588397	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6668106	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6675690	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7520501	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537074	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539808	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
2	chr1:47936000-47945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:47942000-47946800	Enhancers	Liver	Liver
4	chr1:47942400-47944800	Enhancers	Gastric	stomach
5	chr1:47942800-47944600	Enhancers	Fetal Intestine Small	intestine
6	chr1:47943000-47944400	Enhancers	Adipose Nuclei	Adipose
7	chr1:47943000-47944400	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:47943000-47944400	Enhancers	HepG2	liver
9	chr1:47943000-47944600	Enhancers	Fetal Intestine Large	intestine
10	chr1:47943000-47944600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:47943200-47944400	Enhancers	Fetal Lung	lung
12	chr1:47943200-47944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:47943200-47944800	Enhancers	Pancreas	Pancrea
14	chr1:47943400-47944400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:47943400-47944400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:47943600-47944400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:47943600-47944400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr1:47943600-47944600	Bivalent Enhancer	Fetal Stomach	stomach
19	chr1:47943800-47944400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr1:47943800-47944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:47943800-47945200	Weak transcription	Fetal Kidney	kidney
22	chr1:47944000-47948400	Weak transcription	Lung	lung
23	chr1:47944200-47944400	Flanking Active TSS	A549	lung
24	chr1:47944200-47945800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:47944200-47945800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:47944200-47946800	Enhancers	Stomach Mucosa	stomach

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