Variant report

Variant	rs73030350
Chromosome Location	chr2:178616726-178616727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178616347..178619480-chr2:178623071..178625301,3	K562	blood:
2	chr2:178615690..178619114-chr2:178629203..178632242,4	K562	blood:
3	chr2:178614142..178617008-chr2:178620652..178623296,2	MCF-7	breast:
4	chr2:178128229..178130439-chr2:178614886..178617648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56797590	1.00[EUR][1000 genomes]
rs57026464	1.00[EUR][1000 genomes]
rs57986087	1.00[EUR][1000 genomes]
rs58471763	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59234264	1.00[EUR][1000 genomes]
rs59572353	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61217406	0.82[AFR][1000 genomes]
rs61560417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714540	1.00[EUR][1000 genomes]
rs73026501	1.00[EUR][1000 genomes]
rs73028307	1.00[EUR][1000 genomes]
rs73028314	1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[EUR][1000 genomes]
rs73028333	1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	1.00[EUR][1000 genomes]
rs73028355	1.00[EUR][1000 genomes]
rs73030318	1.00[EUR][1000 genomes]
rs73030323	1.00[EUR][1000 genomes]
rs73030331	1.00[EUR][1000 genomes]
rs73030336	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73030347	1.00[EUR][1000 genomes]
rs73030357	1.00[EUR][1000 genomes]
rs73030362	1.00[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178606000-178617800	Weak transcription	Ovary	ovary
2	chr2:178610600-178618400	Weak transcription	Right Atrium	heart
3	chr2:178610600-178618400	Weak transcription	Right Ventricle	heart
4	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
5	chr2:178610800-178618400	Weak transcription	Left Ventricle	heart
6	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:178612600-178618200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178612800-178618200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:178613200-178618200	Weak transcription	K562	blood
10	chr2:178613400-178617800	Weak transcription	Fetal Heart	heart
11	chr2:178614600-178617000	Weak transcription	Fetal Kidney	kidney
12	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
13	chr2:178615400-178617800	Weak transcription	Fetal Lung	lung
14	chr2:178615800-178616800	Enhancers	Psoas Muscle	Psoas
15	chr2:178616000-178617800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:178616200-178618400	Weak transcription	Stomach Mucosa	stomach
17	chr2:178616400-178617400	Weak transcription	Colon Smooth Muscle	Colon

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