Variant report

Variant	rs9946611
Chromosome Location	chr18:28814294-28814295
allele	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: 163 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10164077	1.00[CHB][hapmap]
rs10438930	1.00[CHB][hapmap]
rs11081691	1.00[CHB][hapmap]
rs1154850	1.00[CHB][hapmap]
rs11659665	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11660638	0.91[EUR][1000 genomes]
rs11663622	1.00[CHB][hapmap]
rs11663676	1.00[CHB][hapmap]
rs11663924	0.83[EUR][1000 genomes]
rs11664596	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11872734	1.00[CHB][hapmap]
rs11873223	0.84[EUR][1000 genomes]
rs11873281	0.83[EUR][1000 genomes]
rs11875510	1.00[CHB][hapmap]
rs11875560	1.00[CHB][hapmap]
rs12606446	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12606722	0.92[EUR][1000 genomes]
rs12607370	1.00[CHB][hapmap]
rs12957659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958377	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12959058	0.92[EUR][1000 genomes]
rs12962355	1.00[CHB][hapmap]
rs12963302	1.00[CHB][hapmap]
rs12964422	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964443	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964744	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964748	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964839	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12964907	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965148	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965177	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965803	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965829	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[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	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593511	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17658464	0.91[EUR][1000 genomes]
rs17715828	1.00[CHB][hapmap]
rs2007149	1.00[CHB][hapmap]
rs2042720	0.92[EUR][1000 genomes]
rs2114269	1.00[CHB][hapmap]
rs2162273	1.00[CHB][hapmap]
rs2162274	0.92[EUR][1000 genomes]
rs2199301	1.00[CHB][hapmap]
rs2219583	1.00[CHB][hapmap]
rs28372393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510667	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28615832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901124	1.00[CHB][hapmap]
rs2901125	1.00[CHB][hapmap]
rs34187983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34212801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530511	0.92[EUR][1000 genomes]
rs34634416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136508	0.91[EUR][1000 genomes]
rs35220971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223713	0.83[EUR][1000 genomes]
rs35229932	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35257713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35287825	0.84[EUR][1000 genomes]
rs35362621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35596545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810007	1.00[CHB][hapmap]
rs3810008	1.00[CHB][hapmap]
rs4349226	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356544	1.00[CHB][hapmap]
rs4408611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4517864	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4539673	0.92[EUR][1000 genomes]
rs4598984	0.90[EUR][1000 genomes]
rs55776955	0.99[AFR][1000 genomes];1.00[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	0.98[AFR][1000 genomes];1.00[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	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62090401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506899	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506903	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6506904	0.92[EUR][1000 genomes]
rs6506914	1.00[CHB][hapmap]
rs6506916	1.00[CHB][hapmap]
rs67014182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67550130	0.84[EUR][1000 genomes]
rs7226461	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7227412	0.83[EUR][1000 genomes]
rs7229569	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230461	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7231460	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7232206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233743	1.00[CHB][hapmap]
rs7234662	1.00[CHB][hapmap]
rs7234854	1.00[CHB][hapmap]
rs7235354	1.00[CHB][hapmap]
rs7235384	0.92[EUR][1000 genomes]
rs7235951	1.00[CHB][hapmap]
rs7235975	1.00[CHB][hapmap]
rs7236225	1.00[CHB][hapmap]
rs7237370	1.00[CHB][hapmap]
rs7237383	1.00[CHB][hapmap]
rs7237419	1.00[CHB][hapmap]
rs7239695	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7240897	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7241874	0.83[EUR][1000 genomes]
rs7242742	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7243151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243638	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243885	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244153	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244510	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245008	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72914749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765054	1.00[CHB][hapmap]
rs8087103	0.92[EUR][1000 genomes]
rs8087410	1.00[CHB][hapmap]
rs8087786	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8088637	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8088973	0.95[EUR][1000 genomes]
rs8089598	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8089762	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8091151	1.00[CHB][hapmap]
rs8091579	1.00[CHB][hapmap]
rs8091715	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8091847	1.00[CHB][hapmap]
rs8091871	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs966376	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9947296	0.82[CHB][hapmap]
rs9947444	1.00[CHB][hapmap]
rs9948210	1.00[CHB][hapmap]
rs9950209	1.00[CHB][hapmap]
rs9950622	1.00[CHB][hapmap]
rs9950769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950949	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951341	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs9956026	1.00[CHB][hapmap]
rs9957758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963626	1.00[AFR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9946611	TTR	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28812000-28815000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:28813200-28814400	Enhancers	Fetal Heart	heart
3	chr18:28813600-28814400	Enhancers	HMEC	breast
4	chr18:28813800-28814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:28813800-28814400	Flanking Active TSS	Liver	Liver
6	chr18:28813800-28814400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr18:28813800-28814400	Enhancers	A549	lung
8	chr18:28813800-28814600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:28814000-28814400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:28814000-28822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:28814200-28814400	Enhancers	GM12878-XiMat	blood
12	chr18:28814200-28815000	Enhancers	HepG2	liver
13	chr18:28814200-28815200	Enhancers	Fetal Intestine Large	intestine
14	chr18:28814200-28816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:28814200-28816000	Enhancers	Fetal Intestine Small	intestine
16	chr18:28814200-28816600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:28814200-28818000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:28814200-28820400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:28814200-28820600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:28814200-28820600	Weak transcription	Pancreas	Pancrea
21	chr18:28814200-28820800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:28814200-28821400	Weak transcription	Fetal Kidney	kidney

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