Variant report

Variant	rs73935667
Chromosome Location	chr2:55056761-55056762
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	chr2:55050860..55053564-chr2:55056333..55059728,3	K562	blood:
2	chr2:55054994..55056963-chr2:55058842..55061555,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17046386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56063218	0.82[AFR][1000 genomes]
rs59015634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60310888	0.92[AFR][1000 genomes]
rs61346650	1.00[AMR][1000 genomes]
rs6712532	1.00[AMR][1000 genomes]
rs6723047	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6740845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934833	1.00[AMR][1000 genomes]
rs73934839	0.83[AMR][1000 genomes]
rs73934840	1.00[AMR][1000 genomes]
rs73935222	0.81[AFR][1000 genomes]
rs73935223	0.81[AFR][1000 genomes]
rs73935224	0.81[AFR][1000 genomes]
rs73935225	0.81[AFR][1000 genomes]
rs73935227	0.81[AFR][1000 genomes]
rs73935663	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73935665	0.93[AFR][1000 genomes]
rs73935669	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73935670	0.93[AFR][1000 genomes]
rs73935672	0.92[AFR][1000 genomes]
rs73935673	0.99[AFR][1000 genomes]
rs73936455	1.00[AMR][1000 genomes]
rs73936456	1.00[AMR][1000 genomes]
rs73936460	0.83[AMR][1000 genomes]
rs73936464	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874152	chr2:55023600-55060479	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874153	chr2:55042463-55073428	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55046400-55065600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55053400-55079000	Weak transcription	HepG2	liver
3	chr2:55053600-55065000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:55053600-55065200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:55054200-55067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:55054800-55058600	Weak transcription	HSMMtube	muscle
7	chr2:55056200-55062400	Weak transcription	Ovary	ovary
8	chr2:55056600-55057200	Enhancers	Cortex derived primary cultured neurospheres	brain

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