Variant report

Variant	rs74132217
Chromosome Location	chr1:185300948-185300949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185285397..185289190-chr1:185299692..185306897,6	K562	blood:
2	chr1:185284226..185288398-chr1:185298111..185303024,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10911689	1.00[AMR][1000 genomes]
rs10911691	1.00[AMR][1000 genomes]
rs12064379	1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	1.00[AMR][1000 genomes]
rs12076354	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs16823977	1.00[AFR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs56094240	1.00[AMR][1000 genomes]
rs57172687	1.00[AFR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs59295359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60373073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132219	1.00[AFR][1000 genomes]
rs74132220	1.00[AFR][1000 genomes]
rs74132221	1.00[AFR][1000 genomes]
rs74132289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132291	1.00[AFR][1000 genomes]
rs74132294	1.00[AFR][1000 genomes]
rs74132300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132493	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:185295000-185302200	Weak transcription	K562	blood
2	chr1:185298400-185305200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:185299800-185303000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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