Variant report

Variant	rs7598397
Chromosome Location	chr2:189005192-189005193
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	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10931335	0.82[AMR][1000 genomes]
rs10931337	0.82[AMR][1000 genomes]
rs11890363	0.82[AMR][1000 genomes]
rs12463704	0.82[AMR][1000 genomes]
rs12467500	0.82[AMR][1000 genomes]
rs12994820	0.82[AMR][1000 genomes]
rs13002260	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1371532	0.82[AMR][1000 genomes]
rs1371533	0.82[AMR][1000 genomes]
rs1439891	0.82[AMR][1000 genomes]
rs1439892	0.82[AMR][1000 genomes]
rs1439893	0.82[AMR][1000 genomes]
rs1439902	0.82[AMR][1000 genomes]
rs1439907	0.82[AMR][1000 genomes]
rs1898985	0.82[AMR][1000 genomes]
rs1975387	0.82[AMR][1000 genomes]
rs2119092	0.82[AMR][1000 genomes]
rs28781634	0.81[AMR][1000 genomes]
rs4312445	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4527172	0.82[AMR][1000 genomes]
rs4666754	0.90[AFR][1000 genomes]
rs4666755	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4666756	0.82[AMR][1000 genomes]
rs60748281	0.81[AMR][1000 genomes]
rs62181869	0.87[AMR][1000 genomes]
rs6434265	0.82[AMR][1000 genomes]
rs6706718	0.82[AMR][1000 genomes]
rs6707798	0.82[AMR][1000 genomes]
rs6710330	0.82[AMR][1000 genomes]
rs6725429	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6726669	0.82[AMR][1000 genomes]
rs6727326	0.82[AMR][1000 genomes]
rs6737451	0.82[AMR][1000 genomes]
rs6740546	0.82[AMR][1000 genomes]
rs6742274	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73982108	0.81[AMR][1000 genomes]
rs7567661	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7573123	0.82[AMR][1000 genomes]
rs7597357	0.82[AMR][1000 genomes]
rs7601757	0.82[AMR][1000 genomes]
rs993209	0.82[AMR][1000 genomes]
rs994871	0.82[AMR][1000 genomes]
rs997046	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv584046	chr2:188967163-189006890	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189003600-189005400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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