Variant report

Variant	rs1816227
Chromosome Location	chr3:42934287-42934288
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	chr3:42925984..42928803-chr3:42932233..42934720,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10470680	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11129987	0.81[EUR][1000 genomes]
rs11129988	0.81[EUR][1000 genomes]
rs1346414	0.81[EUR][1000 genomes]
rs1346415	0.81[EUR][1000 genomes]
rs1392319	1.00[ASN][1000 genomes]
rs1403525	1.00[ASN][1000 genomes]
rs17074894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238972	1.00[ASN][1000 genomes]
rs28378297	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601753	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655956	1.00[ASN][1000 genomes]
rs28673478	1.00[ASN][1000 genomes]
rs3915020	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489117	1.00[ASN][1000 genomes]
rs530842	1.00[ASN][1000 genomes]
rs534284	1.00[ASN][1000 genomes]
rs542394	0.80[EUR][1000 genomes]
rs545023	0.80[EUR][1000 genomes]
rs551658	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604393	1.00[ASN][1000 genomes]
rs60616619	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61004728	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617014	1.00[ASN][1000 genomes]
rs62248962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249006	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249007	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249008	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249009	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249011	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249013	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249014	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249015	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62249016	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249584	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs651899	1.00[ASN][1000 genomes]
rs6763762	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773223	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775999	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678310	1.00[ASN][1000 genomes]
rs6798412	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798520	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs680967	1.00[ASN][1000 genomes]
rs681341	1.00[ASN][1000 genomes]
rs6865	1.00[ASN][1000 genomes]
rs73075297	1.00[ASN][1000 genomes]
rs73075301	1.00[ASN][1000 genomes]
rs73077208	1.00[ASN][1000 genomes]
rs73077214	1.00[ASN][1000 genomes]
rs73077238	1.00[ASN][1000 genomes]
rs73087348	1.00[ASN][1000 genomes]
rs735320	1.00[ASN][1000 genomes]
rs73832423	1.00[ASN][1000 genomes]
rs73832424	1.00[ASN][1000 genomes]
rs7617715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644923	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834579	0.81[EUR][1000 genomes]
rs9311330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815609	1.00[ASN][1000 genomes]
rs9816391	1.00[ASN][1000 genomes]
rs9824700	1.00[ASN][1000 genomes]
rs9828785	1.00[ASN][1000 genomes]
rs9832875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9833284	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837761	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840349	1.00[ASN][1000 genomes]
rs9852930	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858270	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862469	1.00[ASN][1000 genomes]
rs9870478	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	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42924000-42935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:42929000-42937200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:42931000-42937800	Weak transcription	Placenta	Placenta
4	chr3:42933000-42934400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:42933200-42938200	Enhancers	Stomach Mucosa	stomach
6	chr3:42933400-42936600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:42933800-42936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:42933800-42936600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:42933800-42936600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:42933800-42941800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:42934000-42936800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:42934000-42937600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:42934000-42937600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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