Variant report

Variant	rs12606446
Chromosome Location	chr18:28813937-28813938
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28805153..28808185-chr18:28812239..28815732,4	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10164077	1.00[CHB][hapmap]
rs11081691	1.00[CHB][hapmap]
rs11659665	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11660638	0.84[EUR][1000 genomes]
rs11664596	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12606722	0.86[EUR][1000 genomes]
rs12607370	1.00[CHB][hapmap]
rs12957659	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958069	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958073	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958351	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958377	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12959058	0.86[EUR][1000 genomes]
rs12962355	1.00[CHB][hapmap]
rs12963302	1.00[CHB][hapmap]
rs12964422	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964443	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964744	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964748	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964839	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964907	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965148	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965177	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965803	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965829	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966119	1.00[JPT][hapmap]
rs12967407	1.00[CHB][hapmap]
rs12969200	1.00[CHB][hapmap]
rs1426309	1.00[CHB][hapmap]
rs1426310	1.00[CHB][hapmap]
rs1426311	1.00[CHB][hapmap]
rs1544880	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593511	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17658464	0.85[EUR][1000 genomes]
rs17715828	1.00[CHB][hapmap]
rs2042720	0.86[EUR][1000 genomes]
rs2114269	1.00[CHB][hapmap]
rs2162274	0.86[EUR][1000 genomes]
rs2199301	1.00[CHB][hapmap]
rs28372393	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510667	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28615832	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633353	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901124	1.00[CHB][hapmap]
rs34187983	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34212801	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301793	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530511	0.86[EUR][1000 genomes]
rs34634416	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664857	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743470	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136508	0.85[EUR][1000 genomes]
rs35220971	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229932	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35257713	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35362621	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35596545	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909227	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349226	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4408611	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4517864	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4539673	0.86[EUR][1000 genomes]
rs4598984	0.83[EUR][1000 genomes]
rs55776955	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308568	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087700	0.87[EUR][1000 genomes]
rs62087701	0.86[EUR][1000 genomes]
rs62087702	0.86[EUR][1000 genomes]
rs62087703	0.86[EUR][1000 genomes]
rs62090396	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62090401	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506899	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506903	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6506904	0.86[EUR][1000 genomes]
rs6506914	1.00[CHB][hapmap]
rs67014182	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226461	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7229569	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230461	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7231460	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7232206	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7235354	1.00[CHB][hapmap]
rs7235384	0.86[EUR][1000 genomes]
rs7239695	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7240897	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7242742	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7243151	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243262	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243638	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243885	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243922	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243984	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244015	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244050	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244153	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244510	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245008	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72914749	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087103	0.86[EUR][1000 genomes]
rs8087786	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8088637	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8088973	0.89[EUR][1000 genomes]
rs8089598	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8089762	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8091715	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8091871	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs966376	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9946611	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948210	1.00[CHB][hapmap]
rs9950622	1.00[CHB][hapmap]
rs9950769	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950949	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950971	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951016	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951341	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs9957758	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963626	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28812000-28815000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:28812200-28814200	Enhancers	Pancreas	Pancrea
3	chr18:28812600-28814200	Flanking Active TSS	HepG2	liver
4	chr18:28812800-28814200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr18:28813200-28814200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28813200-28814400	Enhancers	Fetal Heart	heart
7	chr18:28813600-28814000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr18:28813600-28814200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:28813600-28814200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:28813600-28814200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:28813600-28814200	Enhancers	Fetal Kidney	kidney
12	chr18:28813600-28814200	Enhancers	Left Ventricle	heart
13	chr18:28813600-28814200	Enhancers	Stomach Mucosa	stomach
14	chr18:28813600-28814200	Enhancers	NHEK	skin
15	chr18:28813600-28814400	Enhancers	HMEC	breast
16	chr18:28813800-28814000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr18:28813800-28814000	Enhancers	GM12878-XiMat	blood
18	chr18:28813800-28814200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr18:28813800-28814200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:28813800-28814200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:28813800-28814200	Enhancers	Esophagus	oesophagus
22	chr18:28813800-28814200	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr18:28813800-28814200	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr18:28813800-28814200	Enhancers	Right Ventricle	heart
25	chr18:28813800-28814200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr18:28813800-28814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:28813800-28814400	Flanking Active TSS	Liver	Liver
28	chr18:28813800-28814400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr18:28813800-28814400	Enhancers	A549	lung
30	chr18:28813800-28814600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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