Variant report

Variant	rs1816714
Chromosome Location	chr2:188922131-188922132
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	chr2:188912147..188913962-chr2:188921618..188924228,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10931335	0.88[EUR][1000 genomes]
rs10931337	0.88[EUR][1000 genomes]
rs1121343	0.88[EUR][1000 genomes]
rs1160666	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11685385	0.88[EUR][1000 genomes]
rs11890363	0.88[EUR][1000 genomes]
rs12467500	0.88[EUR][1000 genomes]
rs12619048	0.88[EUR][1000 genomes]
rs12994820	0.88[EUR][1000 genomes]
rs13002260	0.88[EUR][1000 genomes]
rs1371520	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1371521	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1371522	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1371531	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1371532	0.88[EUR][1000 genomes]
rs1371533	0.88[EUR][1000 genomes]
rs1439892	0.88[EUR][1000 genomes]
rs1439893	0.88[EUR][1000 genomes]
rs1439902	0.88[EUR][1000 genomes]
rs1439907	0.88[EUR][1000 genomes]
rs1439911	0.88[EUR][1000 genomes]
rs1583764	0.88[EUR][1000 genomes]
rs1595708	0.88[EUR][1000 genomes]
rs1595759	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16829807	0.88[EUR][1000 genomes]
rs1821999	0.88[EUR][1000 genomes]
rs1898985	0.88[EUR][1000 genomes]
rs1975387	0.88[EUR][1000 genomes]
rs2016081	0.88[EUR][1000 genomes]
rs2083340	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2119092	0.88[EUR][1000 genomes]
rs2165151	0.88[EUR][1000 genomes]
rs2350562	0.88[EUR][1000 genomes]
rs28781634	0.88[EUR][1000 genomes]
rs35745831	0.82[EUR][1000 genomes]
rs4312445	0.88[EUR][1000 genomes]
rs4527172	0.88[EUR][1000 genomes]
rs4666756	0.88[EUR][1000 genomes]
rs60748281	0.88[EUR][1000 genomes]
rs62181869	0.88[EUR][1000 genomes]
rs6434265	0.88[EUR][1000 genomes]
rs6706718	0.88[EUR][1000 genomes]
rs6707798	0.88[EUR][1000 genomes]
rs6710330	0.88[EUR][1000 genomes]
rs6725429	0.88[EUR][1000 genomes]
rs6726669	0.88[EUR][1000 genomes]
rs6727326	0.88[EUR][1000 genomes]
rs6737451	0.88[EUR][1000 genomes]
rs6740546	0.88[EUR][1000 genomes]
rs6742274	0.88[EUR][1000 genomes]
rs6746152	0.88[EUR][1000 genomes]
rs7349430	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73977992	0.88[EUR][1000 genomes]
rs73982108	0.88[EUR][1000 genomes]
rs7567661	0.88[EUR][1000 genomes]
rs7573123	0.88[EUR][1000 genomes]
rs7597357	0.88[EUR][1000 genomes]
rs7601757	0.88[EUR][1000 genomes]
rs966843	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs993209	0.88[EUR][1000 genomes]
rs994871	0.88[EUR][1000 genomes]
rs997046	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875601	chr2:188871436-188934777	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188905400-188923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:188922000-188922200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:188922000-188922600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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