Variant report

Variant	rs7243638
Chromosome Location	chr18:28813318-28813319
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	chr18:28805153..28808185-chr18:28812239..28815732,4	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11659665	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11660638	0.91[EUR][1000 genomes]
rs11663924	0.83[EUR][1000 genomes]
rs11664596	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11873223	0.84[EUR][1000 genomes]
rs11873281	0.83[EUR][1000 genomes]
rs12606446	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12606722	0.92[EUR][1000 genomes]
rs12957659	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958069	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958073	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958377	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12959058	0.92[EUR][1000 genomes]
rs12964422	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964443	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964744	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964748	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964839	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964907	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965148	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965177	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965803	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965829	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544880	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593511	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17658464	0.91[EUR][1000 genomes]
rs2042720	0.92[EUR][1000 genomes]
rs2162274	0.92[EUR][1000 genomes]
rs28372393	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510667	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28615832	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633353	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34187983	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34212801	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301793	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530511	0.92[EUR][1000 genomes]
rs34634416	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664857	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743470	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136508	0.91[EUR][1000 genomes]
rs35220971	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223713	0.83[EUR][1000 genomes]
rs35229932	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35257713	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35287825	0.84[EUR][1000 genomes]
rs35362621	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35596545	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909227	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349226	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4408611	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4517864	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4539673	0.92[EUR][1000 genomes]
rs4598984	0.90[EUR][1000 genomes]
rs55776955	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778425	0.83[EUR][1000 genomes]
rs55965644	0.83[EUR][1000 genomes]
rs56088904	0.84[EUR][1000 genomes]
rs56308568	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087700	0.94[EUR][1000 genomes]
rs62087701	0.92[EUR][1000 genomes]
rs62087702	0.92[EUR][1000 genomes]
rs62087703	0.92[EUR][1000 genomes]
rs62088665	0.84[EUR][1000 genomes]
rs62090396	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62090401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506899	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506903	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6506904	0.92[EUR][1000 genomes]
rs67014182	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67550130	0.84[EUR][1000 genomes]
rs7226461	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7227412	0.83[EUR][1000 genomes]
rs7229569	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230461	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7231460	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7232206	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7235384	0.92[EUR][1000 genomes]
rs7239695	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7240897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7241874	0.83[EUR][1000 genomes]
rs7242742	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7243151	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243262	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243885	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243922	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243984	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244015	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244050	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244153	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244510	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245008	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72914749	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087103	0.92[EUR][1000 genomes]
rs8087786	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8088637	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8088973	0.95[EUR][1000 genomes]
rs8089598	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8089762	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8091715	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8091871	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs966376	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9946611	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950769	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950949	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950971	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951016	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951341	0.91[EUR][1000 genomes]
rs9957758	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963626	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28807800-28813600	Weak transcription	Stomach Mucosa	stomach
2	chr18:28809600-28813800	Enhancers	Fetal Intestine Large	intestine
3	chr18:28809600-28813800	Enhancers	Fetal Intestine Small	intestine
4	chr18:28809800-28813800	Enhancers	Duodenum Mucosa	Duodenum
5	chr18:28811200-28813800	Weak transcription	A549	lung
6	chr18:28811400-28813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:28811600-28813600	Weak transcription	HMEC	breast
8	chr18:28811600-28813600	Weak transcription	NHEK	skin
9	chr18:28811600-28813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28811600-28813800	Enhancers	Liver	Liver
11	chr18:28811800-28813600	Enhancers	GM12878-XiMat	blood
12	chr18:28812000-28815000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:28812200-28814200	Enhancers	Pancreas	Pancrea
14	chr18:28812600-28814200	Flanking Active TSS	HepG2	liver
15	chr18:28812800-28814200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr18:28813000-28813600	Weak transcription	Left Ventricle	heart
17	chr18:28813000-28813800	Weak transcription	Esophagus	oesophagus
18	chr18:28813200-28813600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:28813200-28813600	Weak transcription	Fetal Kidney	kidney
20	chr18:28813200-28814200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:28813200-28814400	Enhancers	Fetal Heart	heart

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