Variant report

Variant	rs73030331
Chromosome Location	chr2:178608334-178608335
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:
2	chr2:178255139..178256771-chr2:178605719..178608448,2	K562	blood:
3	chr2:178262255..178264901-chr2:178608170..178610858,2	K562	blood:
4	chr2:178129974..178131999-chr2:178606687..178609031,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11886258	1.00[EUR][1000 genomes]
rs11901841	1.00[EUR][1000 genomes]
rs12620627	1.00[EUR][1000 genomes]
rs13428260	1.00[EUR][1000 genomes]
rs1344924	1.00[EUR][1000 genomes]
rs1358300	1.00[EUR][1000 genomes]
rs16865743	1.00[EUR][1000 genomes]
rs56797590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57026464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57986087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58471763	1.00[EUR][1000 genomes]
rs59234264	1.00[EUR][1000 genomes]
rs59572353	1.00[EUR][1000 genomes]
rs61560417	1.00[EUR][1000 genomes]
rs6714540	1.00[EUR][1000 genomes]
rs73026501	1.00[EUR][1000 genomes]
rs73028307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030318	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030336	1.00[EUR][1000 genomes]
rs73030347	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030350	1.00[EUR][1000 genomes]
rs73030357	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030362	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030372	0.88[AFR][1000 genomes]
rs73032055	1.00[EUR][1000 genomes]
rs73032059	1.00[EUR][1000 genomes]
rs73032072	1.00[EUR][1000 genomes]
rs73038286	1.00[EUR][1000 genomes]
rs73038287	1.00[EUR][1000 genomes]
rs73042837	1.00[EUR][1000 genomes]
rs73042842	1.00[EUR][1000 genomes]
rs7577598	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178597800-178610200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:178603400-178616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:178604600-178609400	Enhancers	Fetal Kidney	kidney
4	chr2:178606000-178617800	Weak transcription	Ovary	ovary
5	chr2:178606600-178612000	Weak transcription	K562	blood
6	chr2:178607400-178614800	Weak transcription	Fetal Lung	lung
7	chr2:178607600-178610200	Weak transcription	Fetal Muscle Leg	muscle

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